Stem Cell Res 2017 08 25;23:178-181. Epub 2017 Jul 25.
ESTeam Paris Sud, INGESTEM National IPSC Infrastructure, UPSud, Université Paris-Saclay, 94800 Villejuif, France; Division of Hematology, APHP-Paris Sud University hospitals, Le Kremlin Bicêtre 94275 and Villejuif, 94800, France; Division of Hematology, APHP-Paris Sud University Hospitals, Le Kremlin Bicêtre 94275, France; University Paris Sud, UPsud, Faculty of Medicine, Le Kremlin Bicêtre 94275, France.
Heterozygous activating mutation (p.Glu227Lys) in KCNJ11 leads to maturity-onset diabetes of the young (MODY) type 13, that is a subtype of dominant inherited young-onset non-autoimmune diabetes due to a primary defect in pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with KCNJ11 mutation who developed MODY at 13years old. Read More