Abstract
Heterozygous and homozygous mutations in the glucokinase (GCK) gene lead to maturity-onset diabetes of the young type 2 (MODY2) and permanent neonatal diabetes (PNDM), respectively. The present invention relates to a method for generating induced pluripotent stem cell (iPSC) lines from patients with MODY2 and PNDM due to mutations in the GCK gene. The generated iPSC lines are able to differentiate into the three germ layers and show normal karyotypes. These iPSC lines can serve as valuable human cell models for understanding diabetes pathogenesis and developing new therapies for diabetes.
| Original language | English |
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| Patent number | US2024117317 |
| IPC | C12Q 1/ 6869 A I |
| Priority date | 7/02/22 |
| Publication status | Published - 11 Apr 2024 |