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

Siriwal Suwanpitak, Chutima Chanprasert, Ratchapong Netsrithong, Nattachet Plengvidhya, Pa-thai Yenchitsommanus, Methichit Wattanapanitch, Prapaporn Jungtrakoon Thamtarana

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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.
Original languageEnglish
Article number102871
JournalStem Cell Research
Volume63
DOIs
Publication statusPublished - 1 Aug 2022

Keywords

  • Autosomal dominant diabetes
  • Familial diabetes of the adulthood
  • GATA6
  • ZYG11A
  • iPSC

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