Induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient carrying a PKD1 Q533X mutation

Jia-Jung Lee; Ming-Ching Ho; Ching-Ying Huang; Cheng-Hao Wen; Yu-Che Cheng; Yu-Hung Hsu; Daw-Yang Hwang; Huai-En Lu; Hung-Chun Chen; Patrick C H Hsieh

doi:10.1016/j.scr.2017.10.026

Induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient carrying a PKD1 Q533X mutation

Stem Cell Res. 2017 Dec:25:83-87. doi: 10.1016/j.scr.2017.10.026. Epub 2017 Oct 28.

Authors

Affiliations

¹ Division of Nephrology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Faculty of Renal Care, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Ph.D. Program in Translational Medicine, Kaohsiung Medical University and Academia Sinica, Taiwan.
² Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
³ Food Industry Research and development Institute, Hsinchu, Taiwan.
⁴ Division of Nephrology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁵ Division of Nephrology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Faculty of Renal Care, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁶ Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan. Electronic address: phsieh@ibms.sinica.edu.tw.

PMID: 29121521
DOI: 10.1016/j.scr.2017.10.026

Abstract

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most prevalent monogenic kidney disorder leading to kidney failure. We generated induced pluripotent stem cells (iPSCs) from a 37-year-old man carrying a PKD1 Q533X mutation who suffered from kidney failure and a myocardial infarction. The iPSCs were reprogrammed from the patient's peripheral blood mononuclear cells using the Sendai virus system, and were confirmed to possess the specific PKD1 Q533X mutation and normal karyotype. Pluripotency was confirmed using in vitro and in vivo assays. This iPSC line will be useful for studying the mechanisms driving the complicated pathophysiology of ADPKD.

Publication types

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

MeSH terms

Adult
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism*
Leukocytes, Mononuclear / metabolism
Male
Mutation / genetics
Pedigree
Polycystic Kidney, Autosomal Dominant / genetics*
TRPP Cation Channels / genetics*
TRPP Cation Channels / metabolism

Substances

TRPP Cation Channels
polycystic kidney disease 1 protein