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

• Main Authors: Siriwal Suwanpitak, Chutima Chanprasert, Ratchapong Netsrithong, Nattachet Plengvidhya, Pa thai Yenchitsommanus, Methichit Wattanapanitch, Prapaporn Jungtrakoon Thamtarana
• Other Authors: Siriraj Hospital
• Format: Article
• Published: 2022
• Subjects: Biochemistry, Genetics and Molecular Biology
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/73235
• Institution: Mahidol University

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 mod...