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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Suwanpitak S, Chanprasert C, Netsrithong R, Plengvidhya N, Yenchitsommanus PT, Wattanapanitch M, Thamtarana PJ
Journal Stem cell research
Publication Date 2022 Aug;63:102871
PubMed 35853413
DOI 10.1016/j.scr.2022.102871

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