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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 - 1 Aug 2022

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

Abstract excerpt

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...

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PMID: 35853413
DOI: 10.1016/j.scr.2022.102871

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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