Generation of an induced pluripotent stem cell line (MUSIi015-A) from a diabetic patient carrying mutations in ZYG11A (p.L475P) and GATA6 (p.E51K)
Summary
Two heterozygous mutations (p.L475P in ZYG11A and p.E51K in GATA6) were identified in a family with autosomal dominant diabetes. ZYG11A-p.L475P was proposed as a causative mutation because of the complete segregation with hyperglycemia and the proven pathogenic effect on beta-cell expansion. The modifying effect of GATA6-p.E51K was proposed owing to the earlier onset of the carriers. Herein, we establish a line of induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) of a proband who carries both mutations using Sendai viral vectors. The generated iPSC line was characterized for pluripotency, chromosomal normality, and authentication. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Suwanpitak S, Chanprasert C, Netsrithong R, Plengvidhya N, Yenchitsommanus PT, Wattanapanitch M, Thamtarana PJ |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2022 Aug;63:102871 |
| PubMed | 35853413 |
| DOI | 10.1016/j.scr.2022.102871 |