Generation and characterization of an induced pluripotent stem cell (iPSC) line SDQLCHi063-A from peripheral blood mononuclear cells of a patient with Maturity-onset diabetes of the young type 2 carrying GCK exon 1 deletion
Summary
Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant disorder caused by mutations in the GCK gene. It is characterized by a non-progressive slight increase in glycosylated hemoglobin (HbA1c), and mildly raised fasting glucose. Here, we generated an induced pluripotent stem cell line SDQLCHi063-A from a five-year-old boy with MODY2 carrying exon 1 deletion of the GCK gene (OMIM*138079). The iPSC line carries original gene mutation, expresses pluripotency markers, has normal karyotype and differentiated spontaneously in the three germ layers. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Gao M, Li X, Lv Y, Yang X, Liu Y, Gai Z |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Mar 13;77:103389 |
| PubMed | 38507882 |
| DOI | 10.1016/j.scr.2024.103389 |