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

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

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.

Related collections

Author and article information

Journal

Journal ID (iso-abbrev): Stem Cell Res

Title: Stem cell research

Publisher: Elsevier BV

ISSN (Electronic): 1876-7753

ISSN (Print): 1873-5061

Publication date (Electronic): Dec 2017

Volume: 25

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.

Article

Publisher Item ID: S1873-5061(17)30229-5

DOI: 10.1016/j.scr.2017.10.026

PubMed ID: 29121521

SO-VID: 04236ff8-534f-42af-ad30-aebdb976a018

History

Data availability:

Comments

Comment on this article

Cited by 3

See all cited by