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

•A mutation (p.L475P) in ZYG11A completely segregating with hyperglycemia in a family with autosomal dominant diabetes was reported as a cause of cell cycle arrest and a reduced growth rate of beta-cells.•We generated an iPSC line from a diabetic proband with ZYG11A and GATA6 mutations.•This iPSC li...

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Veröffentlicht in:Stem cell research 2022-08, Vol.63, p.102871-102871, Article 102871
Hauptverfasser: Suwanpitak, Siriwal, Chanprasert, Chutima, Netsrithong, Ratchapong, Plengvidhya, Nattachet, Yenchitsommanus, Pa-thai, Wattanapanitch, Methichit, Thamtarana, Prapaporn Jungtrakoon
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Sprache:eng
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Zusammenfassung:•A mutation (p.L475P) in ZYG11A completely segregating with hyperglycemia in a family with autosomal dominant diabetes was reported as a cause of cell cycle arrest and a reduced growth rate of beta-cells.•We generated an iPSC line from a diabetic proband with ZYG11A and GATA6 mutations.•This iPSC line is a useful resource for modeling familial diabetes of the adulthood.•We generate an iPSC line derived from a diabetic proband carrying ZYG11A-p.L475P and GATA6- p.E51K mutations.•The established line of iPSCs is a fruitful resource for modeling diabetes associated with the two mutations. 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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102871