Suwanpitak S., Chanprasert C., Netsrithong R., Plengvidhya N., Yenchitsommanus P.t., Wattanapanitch M., Thamtarana P.J. Generation of an induced pluripotent stem cell line (MUSIi015-A) from a diabetic patient carrying mutations in ZYG11A (p.L475P) and GATA6 (p.E51K). Stem Cell Research Vol.63 (2022). doi:10.1016/j.scr.2022.102871 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/83658
Title
Generation of an induced pluripotent stem cell line (MUSIi015-A) from a diabetic patient carrying mutations in ZYG11A (p.L475P) and GATA6 (p.E51K)
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.
