Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation
Summary
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 KCNJ11p.Glu227Lys mutation who developed MODY at 13years old. KCNJ11p.Glu227Lys-mutated cells that were reprogrammed by non-integrative viral transduction had normal karyotype, harboured the KCNJ11p.Glu227Lys mutation, expressed pluripotency hallmarks and had the differentiation capacity into the three germ layers. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Griscelli F, Feraud O, Ernault T, Oudrihri N, Turhan AG, Bonnefond A, Froguel P, Bennaceur-Griscelli A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2017 Aug;23:178-181 |
| PubMed | 28925365 |
| DOI | 10.1016/j.scr.2017.07.023 |