Abstract
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.
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