1,382 results match your criteria Stem Cell Research [Journal]


Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ.

Stem Cell Res 2019 Feb 14;35:101407. Epub 2019 Feb 14.

The Children's Hospital Affiliated, Key Laboratory of Diagnosis and Treatment of Neonatal Diseases of Zhejiang Province, School of Medicine, Zhejiang University, Hangzhou 310052, China; Institute of Translational Medicine, School of Medicine, Zhejiang University, Hangzhou 310020, China; Department of Neurobiology, Key Laboratory of Medical Neurobiology of Ministry of Health of China, School of Medicine, Zhejiang University, Hangzhou 310058, China. Electronic address:

The human iPSC cell line ZJUCHi001-A was established from renal epithelial cells present in urine (urinary cells) harvested from a 2-year-old Charcot-Marie-Tooth disease type 1B (CMT1B) patient carrying point mutation in MPZ (c.292C>T). Urinary cells were reprogrammed by retrovirus vectors containing reprogramming factors: OCT4, SOX2, KLF4 and c-MYC. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18735061193003
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http://dx.doi.org/10.1016/j.scr.2019.101407DOI Listing
February 2019
4 Reads
3.693 Impact Factor

Permeability analyses and three dimensional imaging of interferon gamma-induced barrier disintegration in intestinal organoids.

Stem Cell Res 2019 Feb 7;35:101383. Epub 2019 Feb 7.

Division of Molecular and Experimental Surgery, Department of Surgery, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg and Universitätsklinikum Erlangen, Translational Research Center, 91054 Erlangen, Germany; Optical Imaging Centre Erlangen (OICE), Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, 91052 Erlangen, Germany.

The aberrant regulation of the epithelial barrier integrity is involved in many diseases of the digestive tract, including inflammatory bowel diseases and colorectal cancer. Intestinal epithelial cell organoid cultures provide new perspectives for analyses of the intestinal barrier in vitro. However, established methods of barrier function analyses from two dimensional cultures have to be adjusted to the analysis of three dimensional organoid structures. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101383DOI Listing
February 2019

Generation of human iPSCs from fetal prostate fibroblasts HPrF.

Stem Cell Res 2019 Feb 7;35:101405. Epub 2019 Feb 7.

Department of Cytokinetics, Institute of Biophysics of the Czech Academy of Sciences, Brno, Czech Republic; International Clinical Research Center, St. Anne's University Hospital Brno, Brno, Czech Republic. Electronic address:

Human induced pluripotent stem cell line was generated from commercially available primary human prostate fibroblasts HPrF derived from a fetus, aged 18-24 weeks of gestation. The fibroblast cell line was reprogrammed with Yamanaka factors (OCT4, SOX2, c-MYC, KLF4) using CytoTune™-iPS 2.0 Sendai Reprogramming Kit. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101405DOI Listing
February 2019

Generation of induced pluripotent stem cell line (ZZUi0012-A) from a patient with Fahr's disease caused by a novel mutation in SLC20A2 gene.

Stem Cell Res 2019 Jan 28;35:101395. Epub 2019 Jan 28.

Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China. Electronic address:

Several SLC20A2 mutations have been implicated as potential causes of Fahr's disease, a subtype of primary familial brain calcification (PFBC), but very few patient-derived induced pluripotent stem cell (iPSC) models have been established. We have identified a novel SLC20A2 mutation in a family with Fahr's disease. We subsequently obtained dermal fibroblasts from a patient in this family. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101395DOI Listing
January 2019

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A.

Stem Cell Res 2019 Feb 11;35:101398. Epub 2019 Feb 11.

Centre for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany. Electronic address:

Fibroblasts of a patient with Infantile Liver Failure Syndrome 2 (OMIM #616483) due to a homozygous missense variant in the neuroblastoma amplified sequence gene (NBAS; c.[2708T>G]; c.[2708T>G]/p. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101398DOI Listing
February 2019
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GMP-compatible manufacturing of three iPS cell lines from human peripheral blood.

Stem Cell Res 2019 Feb 11;35:101394. Epub 2019 Feb 11.

Leibniz Research Laboratories for Biotechnology and Artificial Organs (LEBAO), REBIRTH Cluster of Excellence, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.

The utilization of human induced pluripotent stem cells (hiPSCs) for disease modeling and drug discovery is already reality, and several first-in-man-applications as cellular therapeutics have been initiated. Implementation of good manufacturing practice (GMP)-compliant protocols for the generation of hiPSC lines is crucial to increase the application safety as well as to fulfil the legal requirements for clinical trials approval. Here we describe the development of a GMP-compatible protocol for the reprogramming of CD34 hematopoietic stem cells from peripheral blood (CD34 PBHSC) into hiPSCs using Sendai virus-based reprogramming vectors. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101394DOI Listing
February 2019

Generation of two isogenic iPSC lines with either a heterozygous or a homozygous E280A mutation in the PSEN1 gene.

Stem Cell Res 2019 Feb 7;35:101403. Epub 2019 Feb 7.

Bioneer A/S, Kogle Alle 2, 2970 Hørsholm, Denmark. Electronic address:

Alzheimer's disease (AD) is the most common form of dementia. Mutations in the gene PSEN1 encoding Presenilin1 are known to cause familial forms of AD with early age of onset. The most common mutation in the PSEN1 gene is the E280A mutation. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101403DOI Listing
February 2019

Constitutive activation of Notch2 signalling confers chemoresistance to neural stem cells via transactivation of fibroblast growth factor receptor-1.

Stem Cell Res 2019 Feb 7;35:101390. Epub 2019 Feb 7.

Department of Biomedicine, Pharmazentrum, University of Basel, 4056 Basel, Switzerland. Electronic address:

Notch signalling regulates neural stem cell (NSC) proliferation, differentiation and survival for the correct development and functioning of the central nervous system. Overactive Notch2 signalling has been associated with poor prognosis of aggressive brain tumours, such as glioblastoma multiforme (GBM). We recently reported that constitutive expression of the Notch2 intracellular domain (N2ICD) enhances proliferation and gliogenesis in NSCs. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101390DOI Listing
February 2019
2 Reads

Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis.

Stem Cell Res 2018 Dec 26;35:101367. Epub 2018 Dec 26.

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany; Berlin Institute of Health (BIH), Berlin, Germany.

Autosomal recessive osteopetrosis (ARO) is a genetic bone disease that can be caused by mutations in the CLCN7 gene preventing osteoclast-mediated bone resorption. We generated a human induced pluripotent stem cell (hiPSC) line, BIHi002-A, from peripheral blood mononuclear cells of an ARO patient carrying the CLCN7 mutations c.875G>A and c. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101367DOI Listing
December 2018

Cymerus™ iPSC-MSCs significantly prolong survival in a pre-clinical, humanized mouse model of Graft-vs-host disease.

Stem Cell Res 2019 Feb 1;35:101401. Epub 2019 Feb 1.

Graduate Program in Molecular and Cellular Biology, University of Massachusetts Amherst, Amherst, MA 01003, United States; Department of Veterinary & Animal Sciences, University of Massachusetts Amherst, Amherst, MA 01003, United States. Electronic address:

The immune-mediated tissue destruction of graft-vs-host disease (GvHD) remains a major barrier to greater use of hematopoietic stem cell transplantation (HSCT). Mesenchymal stem cells (MSCs) have intrinsic immunosuppressive qualities and are being actively investigated as a therapeutic strategy for treating GvHD. We characterized Cymerus™ MSCs, which are derived from adult, induced pluripotent stem cells (iPSCs), and show they display surface markers and tri-lineage differentiation consistent with MSCs isolated from bone marrow (BM). Read More

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http://dx.doi.org/10.1016/j.scr.2019.101401DOI Listing
February 2019
2 Reads
3.693 Impact Factor

Corrigendum to "Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis" [Stem Cell Res. 29(2018): 152-156].

Stem Cell Res 2019 Jan;34:101388

Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan; Genomic Research Center, Academia Sinica, Taipei, Taiwan; Institute of Pharmacology, National Yang-Ming University, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101388DOI Listing
January 2019
1 Read
3.693 Impact Factor

Differentiation and isolation of iPSC-derived remodeling ductal plate-like cells by use of an AQP1-GFP reporter human iPSC line.

Stem Cell Res 2019 Jan 31;35:101400. Epub 2019 Jan 31.

Center for iPS Cell Research and Application (CiRA), Kyoto University, Kyoto, Japan. Electronic address:

Cholangiocytes are the epithelial cells that line bile ducts, and ductal plate malformation is a developmental anomaly of bile ducts that causes severe congenital biliary disorders. However, because of a lack of specific marker genes, methods for the stepwise differentiation and isolation of human induced pluripotent stem cell (hiPSC)-derived cholangiocyte progenitors at ductal plate stages have not been established. We herein generated an AQP1-GFP reporter hiPSC line and developed a combination treatment with transforming growth factor (TGF) β2 and epidermal growth factor (EGF) to induce hiPSC-derived hepatoblasts into AQP1 cells in vitro. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101400DOI Listing
January 2019

Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy.

Stem Cell Res 2019 Feb 2;35:101396. Epub 2019 Feb 2.

Department of Neurology, University of Würzburg, Würzburg, Germany. Electronic address:

Induced pluripotent stem cells (iPSC) were derived from human dermal fibroblasts (HDF) of two siblings with small fiber neuropathy (SFN) potentially based on the same variation in SCN10A but exhibiting diverse disease phenotypes. HDF were reprogrammed using a non-integrating mRNA approach and showed robust expression of pluripotency markers. iPSC displayed no chromosomal aberrations and were differentiated into all three germ-layers. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101396DOI Listing
February 2019

Development and characterization of human iPSC line NCCSi004-A from umbilical cord blood (UCB) derived CD34cells obtained from donor belonging to Indian ethnic population.

Stem Cell Res 2019 Jan 26;35:101392. Epub 2019 Jan 26.

Stem Cell Laboratory, National Centre for Cell Science, NCCS Complex, University of Pune Campus, Ganeshkhind, Pune 411007, India. Electronic address:

Here we report the reprogramming of CD34 cells obtained from UCB of a healthy donor female child belonging to the Indian ethnic population. These CD34cells were subjected to nucleofection for delivery of episomal vectors expressing Oct4, Sox2, L-Myc, Lin28, Klf4 and p53DD (negative mutation in p53). The iPSC colonies expressed pluripotency markers as detected by PCR, immunofluorescence and flow-cytometry. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101392DOI Listing
January 2019

Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.

Stem Cell Res 2019 Jan 26;35:101393. Epub 2019 Jan 26.

A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

The Cri du Chat Syndrome (CdCS) is a genetic disease resulting from variable size deletion occurring on the short arm of chromosome 5. The main clinical features are a high-pitched monochromatic cry, microcephaly, severe psychomotor and mental retardation with characteristics of autism spectrum disorders such as hand flapping, obsessive attachments to objects, twirling objects, repetitive movements, and rocking. We reprogrammed to pluripotency peripheral blood mononuclear cells derived from a patient carrying large deletion on the short arm of chromosome 5, using a commercially available non-integrating expression system. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101393DOI Listing
January 2019
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Receptor interacting protein kinase 3 (RIP3) regulates iPSCs generation through modulating cell cycle progression genes.

Stem Cell Res 2019 Jan 23;35:101387. Epub 2019 Jan 23.

Retina Service, Angiogenesis Laboratory, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA 02114, United States. Electronic address:

The molecular mechanisms involved in induced pluripotent stem cells (iPSCs) generation are poorly understood. The cell death machinery of apoptosis-inducing caspases have been shown to facilitate the process of iPSCs reprogramming. However, the effect of other cell death processes, such as programmed necrosis (necroptosis), on iPSCs induction has not been studied. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101387DOI Listing
January 2019
3.693 Impact Factor

Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene.

Stem Cell Res 2019 Jan 17;35:101386. Epub 2019 Jan 17.

Fundació de Recerca de l'Institut de Microcirurgia Ocular, Barcelona, Spain; Departament de Genètica, Institut de Microcirurgia Ocular (IMO), Barcelona, Spain. Electronic address:

A human induced pluripotent stem cell (iPSC) line was generated from a female patient affected by autosomal recessive retinitis pigmentosa with two mutations in the USH2A gene: c.2209C > T (p.Arg737Ter) and c. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101386DOI Listing
January 2019
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Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations.

Stem Cell Res 2019 Jan 17;35:101385. Epub 2019 Jan 17.

Stem Cell Core Facility, Columbia University, New York (NY), USA.

Retinitis pigmentosa (RP) refers to a clinical and genetic heterogeneous group of inherited retinal degenerations characterized by photoreceptor cell death. In this work, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with two heterozygous mutations in the cGMP-specific phosphodiesterase 6A alpha subunit (PDE6A) gene. Skin fibroblasts were generated and reprogrammed by using a Sendai virus-based approach. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101385DOI Listing
January 2019
1 Read

Corrigendum to: "Generation of two induced pluripotent stem cell (iPSC) lines from p.F508del Cystic Fibrosis patients" Stem Cell Res. 2018 May; 29:1-5.

Stem Cell Res 2019 Jan 22;34:101384. Epub 2019 Jan 22.

Consejo Superior de Investigaciones Científicas (CSIC/IMEDEA), Miguel Marqués 21, 07190 Esporles, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101384DOI Listing
January 2019
6 Reads

Generation of induced pluripotent stem cells (IRMBi001-A) from an Alzheimer's disease patient carrying a G217D mutation in the PSEN1 gene.

Stem Cell Res 2019 Jan 3;34:101381. Epub 2019 Jan 3.

Institute for Regenerative Medicine and Biotherapy (IRMB), Montpellier, France; Hopital St Eloi, CHU Montpellier, 80 rue augustin Fliche, 30295 Montpellier, France; Université de Montpellier, UM, 163 Rue Auguste Broussonnet, 34090 Montpellier, France. Electronic address:

Induced pluripotent stem cells (iPSC) were generated from skin fibroblasts obtained from a 50 year-old patient suffering from Alzheimer's disease and carrying a G217D causal mutation on presenilin 1 (PSEN1). iPSCs were obtained following reprogramming using the integration-free Sendai Virus system which allows expression of the Yamanaka factors. Verification of their pluripotency was achieved by demonstrating the expression of pluripotency markers and their differentiation potential into the three primary germ layers. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101381DOI Listing
January 2019
5 Reads

Generation of two spinal muscular atrophy (SMA) type I patient-derived induced pluripotent stem cell (iPSC) lines and two SMA type II patient-derived iPSC lines.

Stem Cell Res 2019 Jan 11;34:101376. Epub 2019 Jan 11.

Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, Novosibirsk, Russia; E.N. Meshalkin National Medical Research Centre, Ministry of Healthcare of Russian Federation, Novosibirsk, Russia; National Research University Novosibirsk State University, Novosibirsk, Russia. Electronic address:

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletion or mutation in SMN1 gene. SMA human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the study of the disorder, as they provide in vitro the target cells. We generated iPSCs from a SMA type I patient and SMA type II patient by using non-integrating episomal plasmid vectors. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101376DOI Listing
January 2019
1 Read

Generation of a set of isogenic, gene-edited iPSC lines homozygous for all main APOE variants and an APOE knock-out line.

Stem Cell Res 2019 Jan 4;34:101349. Epub 2019 Jan 4.

Janssen Research & Development, Division of Janssen Pharmaceutica; N.V., Neuroscience Therapeutic Area, Turnhoutseweg 30, 2340 Beerse, Belgium.

Alzheimer's disease (AD) is the most frequent neurodegenerative disease amongst the elderly. The SNPs rs429358 and rs7412 in the APOE gene are the most common risk factor for sporadic AD, and there are three different alleles commonly referred to as APOE-ε2, APOE-ε3 and APOE-ε4. Induced pluripotent stem cells (iPSCs) hold great promise to model AD as such cells can be differentiated in vitro to the required cell type. Read More

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http://dx.doi.org/10.1016/j.scr.2018.11.010DOI Listing
January 2019
2 Reads

Generation of NERCe003-A-3, a p53 compound heterozygous mutation human embryonic stem cell line, by CRISPR/Cas9 editing.

Stem Cell Res 2019 Jan 17;34:101371. Epub 2018 Dec 17.

Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China; National Engineering and Research Center of Human Stem Cells, Changsha, China; Key Laboratory of Stem Cells and Reproductive Engineering, Ministry of Health, Changsha, China; Reproductive & Genetic Hospital of CITIC-Xiangya, Changsha, China. Electronic address:

p53 is a tumor suppressor gene involved mainly in the regulation of the G1/S cell cycle phase, DNA repair, and senescence. Although p53 is frequently altered in human cancer, the consequences of its depletion in human embryonic stem cells (hESCs) are unknown. We generated NERCe003-A-3, a p53 knockout hESC line, from the normal NERCe003-A hESC line by using CRISPR/Cas9 editing. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183030
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http://dx.doi.org/10.1016/j.scr.2018.101371DOI Listing
January 2019
5 Reads

Generation of induced pluripotent stem cell line, ICGi007-A, by reprogramming peripheral blood mononuclear cells from a patient with Huntington's disease.

Stem Cell Res 2019 Jan 2;34:101382. Epub 2019 Jan 2.

Federal Research Center Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia; State Research Institute of Circulation Pathology, Ministry of Healthcare of the Russian Federation, Novosibirsk, Russia; Institute of Chemical Biology and Fundamental Medicine, the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia; National Research University, Novosibirsk State University, Novosibirsk, Russia. Electronic address:

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by mutation in the HTT gene encoding HTT protein. The mutant protein leads to the neuronal death through dysregulation of multiple cellular processes. HD human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the disease study. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101382DOI Listing
January 2019
6 Reads

Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene.

Stem Cell Res 2019 Jan 26;34:101373. Epub 2018 Dec 26.

Stem Cell Laboratory for CNS Disease Modeling, Department of Experimental Medical Science, BMC D10, Lund University, Lund, Sweden; Strategic Research Area MultiPark, Lund Stem Cell Center, Lund University, Lund, Sweden.

Mutations in the glucocerebrosidase (GBA) gene have been associated with the development of Parkinson's disease (PD). An induced pluripotent stem cell (iPSC) line was generated from a 60-year old patient diagnosed with PD and carrying a new mutation variant p.R301C in GBA. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101373DOI Listing
January 2019
2 Reads

Sufficiency of hypoxia-inducible 2-oxoglutarate dioxygenases to block chemical oxidative stress-induced differentiation of human embryonic stem cells.

Stem Cell Res 2019 Jan 12;34:101358. Epub 2018 Dec 12.

Centre for Clinical Brain Sciences, Chancellors Building, 49 Little France Crescent, University of Edinburgh, Edinburgh EH16 4SB, UK; MRC Centre for Regenerative Medicine, Scottish Centre for Regenerative Medicine, 5 Little France Dr, Edinburgh EH16 4UU, UK. Electronic address:

Hypoxia benefits undifferentiated pluripotent stem cell renewal, and 2-oxoglutarate (2OG) dioxygenases have been implicated in pluripotent stem cell induction and renewal. We show in human embryonic stem cells (hESC) that an ambient oxygen-induced oxidative stress response elicited by culture in a hypoxic atmosphere (0.5% O) correlates with the expression of 2OG dioxygenases, which oxidise DNA (TET1, 2, 3) and histone H3 (KDM4C), the former reflected by elevation in genomic 5-hydroxymethylcytosine (5hmC). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183028
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http://dx.doi.org/10.1016/j.scr.2018.11.019DOI Listing
January 2019
5 Reads

Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene.

Stem Cell Res 2019 Jan 26;34:101374. Epub 2018 Dec 26.

National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address:

Noonan syndrome with multiple lentigines (NSML), formerly known as LEOPARD Syndrome, is a rare autosomal dominant disorder. Approximately 90% of NSML cases are caused by missense mutations in the PTPN11 gene which encodes the protein tyrosine phosphatase SHP2. A human induced pluripotent stem cell (iPSC) line was generated using peripheral blood mononuclear cells (PBMCs) from a patient with NSML that carries a gene mutation of p. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101374DOI Listing
January 2019
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Generation of a heterozygous p53 R249S mutant human embryonic stem cell line by TALEN-mediated genome editing.

Stem Cell Res 2019 Jan 30;34:101360. Epub 2018 Nov 30.

Department of Integrative Biology and Pharmacology, McGovern Medical School, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA. Electronic address:

As one of the most essential genome guardians, p53 and its mutants have been suggested associated with many types of cancers. Many p53 mutants function induce unique phenotypes, including carcinogenesis, metastasis, and drug resistance. The p53(R249S) mutation is the most prevalent and specific mutation associated with liver cancer development. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101360DOI Listing
January 2019
5 Reads
3.693 Impact Factor

Generation of two iPSC lines with either a heterozygous V717I or a heterozygous KM670/671NL mutation in the APP gene.

Stem Cell Res 2019 Jan 24;34:101368. Epub 2018 Dec 24.

Group of Stem Cells and Modeling of Neurodegeneration, Department of Veterinary and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark, Grønnegardsvej 7, 1870C Frederiksberg, Denmark. Electronic address:

Alzheimer's disease (AD) is the most common form of dementia, affecting millions of people worldwide. Mutations in the genes PSEN1, PSEN2 or APP are known to cause familial forms of AD with an early age of onset. In this study, specific pathogenic mutations in the APP gene were introduced into an iPSC line from a healthy individual by the use of CRISPR-Cas9. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183030
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http://dx.doi.org/10.1016/j.scr.2018.101368DOI Listing
January 2019
5 Reads

Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy.

Stem Cell Res 2019 Jan 30;34:101352. Epub 2018 Nov 30.

Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia.

We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene (c.[5461-10 T > C];[4139C > T]). Reprogramming of patient dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA to establish the clonal iPSC line LEIl007-A. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183028
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http://dx.doi.org/10.1016/j.scr.2018.11.013DOI Listing
January 2019
4 Reads

Generation of four iPSC lines from peripheral blood mononuclear cells (PBMCs) of an attention deficit hyperactivity disorder (ADHD) individual and a healthy sibling in an Australia-Caucasian family.

Stem Cell Res 2019 Jan 19;34:101353. Epub 2018 Dec 19.

Monash Institute of Cognitive and Clinical Neurosciences and School of Psychological Sciences, Monash University, Wellington Road, Clayton, Victoria, Australia.

Peripheral blood mononuclear cells were donated by a male teenager with clinically diagnosed attention deficit hyperactivity disorder (ADHD) under the Diagnostic and Statistical Manual of Mental Disorders IV criteria and his unaffected male sibling. Induced pluripotent stem cells were developed using integration-free Sendai Reprogramming factors containing OCT4, SOX2, KLF4, and c-MYC. All four iPSC lines displayed pluripotent cell morphology, pluripotency-associated factors at the DNA and protein level, alkaline phosphatase enzymatic activity and a male karyotype of 46, XY. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183028
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http://dx.doi.org/10.1016/j.scr.2018.11.014DOI Listing
January 2019
3 Reads

Induced pluripotent stem cell line, ICAGi001-A, derived from human skin fibroblasts of a patient with 2p25.3 deletion and 2p25.3-p23.3 inverted duplication.

Stem Cell Res 2019 Jan 18;34:101377. Epub 2018 Dec 18.

Institute of Cytology and Genetics, SB RAS, Novosibirsk, Russia.

Skin fibroblasts from a patient with developmental delay and chromosome 2p25.3 deletion syndrome were reprogrammed into induced pluripotent stem cells (iPSCs) and the clonal stem cell line ICAGi001-A (iTAF9-11) was established. ICAGi001-A pluripotency was demonstrated in vitro by three germ layer differentiation capacity. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101377DOI Listing
January 2019
1 Read

Generation of induced pluripotent stem cell line (ZZUi0013-A) from a 65-year-old patient with a novel MEOX2 gene mutation in Alzheimer's disease.

Stem Cell Res 2019 Jan 27;34:101366. Epub 2018 Dec 27.

Center for Stem Cell and Regenerative Medicine, Department of Basic Medical Sciences, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang 310058, China; Institute of Hematology, Zhejiang University, Hangzhou, Zhejiang 310058, China. Electronic address:

MEOX2 mutation has been reported as a potential cause of familial Alzheimer's disease. Recently, a novel MEOX2 mutation was identified in a family with Alzheimer's disease. The dermal fibroblasts of the patient were obtained and successfully transformed into induced pluripotent stem cells (iPSCs), employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101366DOI Listing
January 2019
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Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation.

Stem Cell Res 2019 Jan 27;34:101372. Epub 2018 Dec 27.

Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany. Electronic address:

Human fibroblasts cells from a female diagnosed with Nijmegen Breakage Syndrome (NBS) carrying the homozygous NBN c.657_661del5 mutation were used to generate integration-free induced pluripotent stem cells (iPSCs) by over-expressing episomal-based plasmids harbouring OCT4, SOX2, NANOG, KLF4, c-MYC and LIN28. The derived iPSC line - ISRM-NBS1 was defined as pluripotent based on (i) expression of pluripotency-associated markers (ii) embryoid body-based differentiation into cell types representative of the three germ layers and (iii) the similarity between the transcriptome of the iPSC line and the human embryonic stem cell line H1 with a Pearson correlation of 0. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101372DOI Listing
January 2019
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Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK.

Stem Cell Res 2019 Jan 16;34:101341. Epub 2018 Nov 16.

Stem Cells Therapies in Neurodegenerative Diseases Lab, Centro de Investigacion Principe Felipe (CIPF), Valencia, Spain; National Stem Cell Bank-Valencia Node, Proteomics, Genotyping and Cell Line Platform, PRB3, ISCIII, Research Centre Principe Felipe, c/Eduardo Primo Yúfera 3, 46012, Valencia, Spain. Electronic address:

The human induced pluripotent stem cell (hiPSC) line RP1-FiPS4F1 generated from the patient with autosomal recessive retinitis pigmentosa (arRP) caused by homozygous Ser331Cysfs*5 mutation in Mer tyrosine kinase receptor (MERTK) was genetically corrected using CRISPR/Cas9 system. Two isogenic hiPSCs lines, with heterozygous and homozygous correction of c.992_993delCA mutation in the MERTK gene were generated. Read More

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http://dx.doi.org/10.1016/j.scr.2018.11.003DOI Listing
January 2019
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Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene.

Stem Cell Res 2019 Jan 5;34:101362. Epub 2018 Dec 5.

National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address:

NGLY1 deficiency is a rare genetic disease caused by mutations in the NGLY1 gene that encodes N-glycanase 1. The disease phenotype in patient cells is unclear. A human induced pluripotent stem cell (iPSC) line was generated from skin dermal fibroblasts of a patient with NGLY1 deficiency that has compound heterozygous mutations of a p. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183029
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http://dx.doi.org/10.1016/j.scr.2018.101362DOI Listing
January 2019
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3.693 Impact Factor

Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76).

Stem Cell Res 2019 Jan 27;34:101354. Epub 2018 Nov 27.

Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China. Electronic address:

The human iPS cell line, hiPS-SPG76 (FJMUi001-A), derived from skin fibroblasts from a 42-year-old male hereditary spastic paraplegia patient carrying compound heterozygous p.P498L (c.1493C > T) and p. Read More

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http://dx.doi.org/10.1016/j.scr.2018.11.015DOI Listing
January 2019
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Generation of Spinocerebellar Ataxia Type 2 induced pluripotent stem cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal CAG repeats in the coding region of the ATXN2 gene.

Stem Cell Res 2019 Jan 10;34:101361. Epub 2018 Dec 10.

Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, USA; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia and The University of Pennsylvania, USA. Electronic address:

Spinocerebellar Ataxia Type 2 (SCA2) is an autosomal dominant disease characterized by progressive degeneration of the cerebellum, brain stem, and spinal cord. SCA2 is caused by spontaneous misfolding and aggregate formation from abnormal CAG trinucleotide repeat expansion in the coding region of the ATXN2 gene. Here we describe the generation of two distinct iPSC lines from patients with SCA2. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101361DOI Listing
January 2019
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Establishment of an induced pluripotent stem cell line (FDEENTi001-A) from a patient with pathological myopia.

Stem Cell Res 2019 Jan 14;34:101369. Epub 2018 Dec 14.

Department of Ophthalmology & Vision Science, Eye & ENT Hospital, Shanghai Medical School, Fudan University, Shanghai, China; Key NHC Key Laboratory of Myopia (Fudan University), Laboratory of Myopia, Chinese Academy of Medical Sciences, China. Electronic address:

Pathological myopia (PM) is a retinal degenerative disease with an increasing prevalence in Asia. The peripheral blood mononuclear cells (PBMCs) from a patient with PM were successfully reprogrammed to induced pluripotent stem cells (iPSCs) using integration-free method, Sendai viral (SeV) vectors expressing OCT4, SOX2, KLF4 and C-MYC. This line may provide a useful resource for exploring the pathogenesis of PM. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101369DOI Listing
January 2019
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Establishment of human embryonic stem cell line Amicqui-2 using poor-quality embryos from Mexican population.

Stem Cell Res 2019 Jan 10;34:101364. Epub 2018 Dec 10.

Departamento de Fisiología y Desarrollo Celular, Instituto Nacional de Perinatología, Ciudad de México, Mexico. Electronic address:

Although investigation with human embryonic stem cells (HESC) is not decreasing, the derivation of new lines has been diminished. The preeminence of only a few HESC lines in research is accompanied by lack of universal applicability of results as well as by genetic under-representation. We previously reported the derivation of one line with male karyotype from Mexican population. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101364DOI Listing
January 2019
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3.693 Impact Factor

Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier.

Stem Cell Res 2019 Jan 10;34:101357. Epub 2018 Dec 10.

Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia. Electronic address:

We report the generation of the human iPSC line LEIi008-A from a patient with retinitis pigmentosa-11 caused by a dominant nonsense mutation in the PRPF31 gene (NM_015629.3:c.1205C > A p. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183028
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http://dx.doi.org/10.1016/j.scr.2018.11.018DOI Listing
January 2019
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Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient.

Stem Cell Res 2019 Jan 14;34:101359. Epub 2018 Dec 14.

Department of Human Genetics, LUMC, Leiden, The Netherlands.

Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type (HCHWA-D) is an autosomal dominant hereditary disease caused by a point mutation in exon 17 of the APP gene. We generated human induced pluripotent stem cells (hiPSCs) from a symptomatic HCHWA-D patient by using non-integrating Sendai virus (SeV). The newly generated hiPSCs express all pluripotency markers, have a normal karyotype, carry the Dutch mutation, can differentiate in the three germ layers in vitro and are SeV free. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101359DOI Listing
January 2019
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Generation of an induced pluripotent stem cell cohort suitable to investigate sporadic Alzheimer's Disease.

Stem Cell Res 2019 Jan 5;34:101351. Epub 2018 Dec 5.

BioMedX Innovation Center, Heidelberg, Germany. Electronic address:

Alzheimer's Disease (AD) is the major cause of dementia in the elderly, and cortical neurons differentiated from patient-derived induced pluripotent stem cells (iPSCs) can recapitulate disease phenotypes such as tau phosphorylation or amyloid beta (Aß) deposition. Here we describe the generation of an iPSC cohort consisting of 2 sporadic AD cases and 3 controls, derived from dermal fibroblasts. All lines were karyotypically normal, showed expression of stem cell markers and efficiently differentiated into cells of all three germ layers. Read More

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http://dx.doi.org/10.1016/j.scr.2018.11.012DOI Listing
January 2019
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Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.

Stem Cell Res 2018 Nov 18:101336. Epub 2018 Nov 18.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Hoppe-Seyler-Str. 3, 72076 Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.

Gaucher disease is the most common autosomal recessive lysosomal storage disorder, caused by mutations in the β-glucocerebrosidase gene GBA. Here we describe generation of iPSC from skin-derived fibroblasts from two unrelated individuals with neuronopathic forms of Gaucher disease. The donor for line iPSC-GBA-1, a 21 month old girl, carried the recurring GBA mutation c. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183026
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http://dx.doi.org/10.1016/j.scr.2018.10.021DOI Listing
November 2018
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Generation of induced pluripotent stem cell lines from two Neuroblastoma patients carrying a germline ALK R1275Q mutation.

Stem Cell Res 2019 Jan 18;34:101356. Epub 2018 Dec 18.

Dept. of Neuroscience, Karolinska Institutet, Biomedicum D7, 17165 Stockholm, Sweden. Electronic address:

Neuroblastoma (NB) is an embryonic tumor of the peripheral nervous system and one of the most common solid cancers in infants. Mutations in the Anaplastic lymphoma tyrosine kinase (ALK) gene are common in NB. To study the contribution of ALK mutations in NB initiation and progression, we reprogrammed fibroblasts from two related NB patients carrying germline mutations in ALK (R1275Q) using non-integrating Sendai virus. Read More

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http://dx.doi.org/10.1016/j.scr.2018.11.017DOI Listing
January 2019
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Establishment of human induced pluripotent stem cell line from a patient with Angelman syndrome carrying the deletion of maternal chromosome 15q11.2-q13.

Stem Cell Res 2019 Jan 10;34:101363. Epub 2018 Dec 10.

Center for iPS Cell Research and Application (CiRA), Kyoto University, 53 Kawahara-cho, Shogoin, Sakyo-ku, Kyoto, Japan; iPSC-based Drug Discovery and Development Team, RIKEN BioResource Research Center, Kyoto, Japan. Electronic address:

Angelman syndrome is a rare neurodevelopmental disorder caused by the loss of function of the maternally expressed E3 ubiquitin ligase UBE3A. We established human induced pluripotent stem cells (iPSCs) from an Angelman syndrome patient with the deletion of maternal 15q11.2-q13 including UBE3A gene. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101363DOI Listing
January 2019
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Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for the STUB1 locus.

Stem Cell Res 2019 Jan 21;34:101378. Epub 2018 Dec 21.

German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address:

STUB1/CHIP is a central component of cellular protein homeostasis and interacts with key proteins involved in the pathogenesis of many neurodegenerative diseases. Missense and truncating mutations in STUB1 lead to SCAR16. For ideal in vitro disease modelling with isogenic controls, we generated a CHIP knockout cell line from a healthy control with no CHIP functionality, but remaining genomic integrity and verified pluripotency. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101378DOI Listing
January 2019
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Generation of seven induced pluripotent stem cell lines from neonates of different ethnic backgrounds.

Stem Cell Res 2019 Jan 20;34:101365. Epub 2018 Dec 20.

Waisman Center, University of Wisconsin, Madison, WI, USA; Department of Cell and Regenerative Biology, School of Medicine and Public Health, University of Wisconsin, Madison, WI, USA. Electronic address:

Seven human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts from three neonatal individuals using non-integrative reprogramming. Most control iPSCs are derived from adults, so these iPSCs meet the need for control iPSCs from young individuals. Donors were from different ethnicities and these lines provide unique genetic profiles. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101365DOI Listing
January 2019
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Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults.

Stem Cell Res 2019 Jan 27;34:101380. Epub 2018 Dec 27.

Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Victoria 3052, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria 3052, Australia; Department of Anatomy and Developmental Biology, Monash University, Clayton, Victoria 3800, Australia.

We describe the generation and characterization of 5 human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) of healthy adult individuals. The PBMCs were reprogrammed using non-integrating Sendai viruses containing the reprogramming factors POU5F1 (OCT4), SOX2, KLF4 and MYC. The iPSC lines exhibited a normal karyotype, expressed pluripotency markers and differentiated into cells representative of the three embryonic germ layers. Read More

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http://dx.doi.org/10.1016/j.scr.2018.101380DOI Listing
January 2019
1 Read