Generation of an induced pluripotent stem cell line (MUSIi015-A) from a diabetic patient carrying mutations in ZYG11A (p.L475P) and GATA6 (p.E51K)

[摘要] 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.

[学科分类] 生理学

[关键词] Familial diabetes of the adulthood;Autosomal dominant diabetes;ZYG11A;GATA6;iPSC