Generation of human induced pluripotent stem cell line (MUi026-A) from a patient with autosomal dominant polycystic kidney disease carrying PKD1 point mutation

Warun Maneepitasut; Wasinee Wongkummool; Pirut Tong-Ngam; Kornkanok Promthep; Alisa Tubsuwan; Aung Khine Linn; Bunyong Phakdeekitcharoen; Suparerk Borwornpinyo; Narisorn Kitiyanant; Phetcharat Phanthong; Suradej Hongeng

doi:10.1016/j.scr.2021.102306

Generation of human induced pluripotent stem cell line (MUi026-A) from a patient with autosomal dominant polycystic kidney disease carrying PKD1 point mutation

Stem Cell Res. 2021 May:53:102306. doi: 10.1016/j.scr.2021.102306. Epub 2021 Mar 22.

Affiliations

¹ Molecular Medicine Program, Multidisciplinary Unit, Faculty of Science, Mahidol University, Bangkok 10400, Thailand.
² Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
³ Research Center for Neuroscience, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
⁴ Excellent Center for Drug Discovery, Faculty of Science, Mahidol University, Bangkok 10400 Thailand.
⁵ Division of Nephrology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
⁶ Excellent Center for Drug Discovery, Faculty of Science, Mahidol University, Bangkok 10400 Thailand; Department of Biotechnology, Faculty of Science, Mahidol University, Bangkok 10400, Thailand.
⁷ Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand. Electronic address: narisorn.kit@mahidol.ac.th.
⁸ Department of Anatomy, Faculty of Science, Mahidol University, Bangkok 10400, Thailand. Electronic address: phetcharat.pha@mahidol.edu.
⁹ Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.

PMID: 33799277
DOI: 10.1016/j.scr.2021.102306

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is one of the common genetic kidney disorders that are caused by mutations in PKD1 or PKD2 gene. In this report, the MUi026-A human induced pluripotent stem cell (hiPSC) line was established from the skin fibroblasts of a female ADPKD patient who had the PKD1 mutation with c.5878C > T. The iPSC line retained normal karyotype. The cells displayed embryonic stem cell-like characteristics with pluripotency marker expression and were able to differentiate into three germ layers.

Publication types

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

MeSH terms

Female
Humans
Induced Pluripotent Stem Cells*
Mutation
Point Mutation
Polycystic Kidney, Autosomal Dominant* / genetics
TRPP Cation Channels / genetics

Substances

TRPP Cation Channels