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
| Autor: | Frank Griscelli, Olivier Feraud, Tony Ernault, Noufissa Oudrihri, Ali G. Turhan, Amélie Bonnefond, Philippe Froguel, Annelise Bennaceur-Griscelli |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | Stem Cell Research, Vol 23, Iss C, Pp 178-181 (2017) |
| Druh dokumentu: | article |
| ISSN: | 1873-5061 1876-7753 |
| DOI: | 10.1016/j.scr.2017.07.023 |
| Popis: | 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 13 years 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. |
| Databáze: | Directory of Open Access Journals |
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