Generation of an induced pluripotent stem cell line (MUSIi014-A) from an affected member of a family with autosomal dominant diabetes carrying p.L475P mutation in ZYG11A gene associated with a cell cycle arrest in beta-cell

Chutima Chanprasert; Nutchanawan Promnakhon; Nontaphat Thongsin; Siriwal Suwanpitak; Nattachet Plengvidhya; Pa-Thai Yenchitsommanus; Prapaporn Jungtrakoon Thamtarana; Methichit Wattanapanitch

doi:10.1016/j.scr.2022.102715

Generation of an induced pluripotent stem cell line (MUSIi014-A) from an affected member of a family with autosomal dominant diabetes carrying p.L475P mutation in ZYG11A gene associated with a cell cycle arrest in beta-cell

Stem Cell Res. 2022 Apr:60:102715. doi: 10.1016/j.scr.2022.102715. Epub 2022 Feb 16.

Authors

Chutima Chanprasert¹, Nutchanawan Promnakhon², Nontaphat Thongsin², Siriwal Suwanpitak³, Nattachet Plengvidhya⁴, Pa-Thai Yenchitsommanus¹, Prapaporn Jungtrakoon Thamtarana⁵, Methichit Wattanapanitch⁶

Affiliations

¹ Cellular and Molecular Biology of Diabetes Research Group, Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Siriraj Center of Research Excellence for Diabetes and Obesity, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
² Siriraj Center for Regenerative Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Graduate Program in Immunology, Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
³ Siriraj Center for Regenerative Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
⁴ Siriraj Center of Research Excellence for Diabetes and Obesity, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
⁵ Cellular and Molecular Biology of Diabetes Research Group, Division of Molecular Medicine, Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Siriraj Center of Research Excellence for Diabetes and Obesity, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. Electronic address: prapaporn.jun@mahidol.ac.th.
⁶ Siriraj Center for Regenerative Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. Electronic address: methichit.wat@mahidol.ac.th.

PMID: 35193007
DOI: 10.1016/j.scr.2022.102715

Abstract

A heterozygous mutation (c.T1424C: p.L475P) in ZYG11A completely segregating with hyperglycemia in a Thai family with familial diabetes of the adulthood has been reported as a cause of cell cycle arrest in 1.1B4 cell line. This mutation is a suggestive cause of failure in adaptive beta-cell expansion which, thereby, contributes to the development of diabetes in the family. Here, an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of an affected family member carrying the mutation was generated using Sendai viral reprogramming. The established iPSC line is characterized and confirmed for pluripotency and chromosomal integrity.

Keywords: Autosomal dominant diabetes; Familial diabetes of the adulthood; ZYG11A; iPSC.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Cell Cycle Checkpoints
Cell Cycle Proteins / genetics
Diabetes Mellitus, Type 2* / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Leukocytes, Mononuclear
Mutation / genetics

Substances

Cell Cycle Proteins
ZYG11A protein, human

Supplementary concepts

Mason-Type Diabetes