Generation of induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient with a p.Ser1457fs mutation in PKD1

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

doi:10.1016/j.scr.2017.09.004

Generation of induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient with a p.Ser1457fs mutation in PKD1

Stem Cell Res. 2017 Oct:24:139-143. doi: 10.1016/j.scr.2017.09.004. Epub 2017 Sep 15.

Authors

Affiliations

¹ Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
² Ph.D. Program in Translational Medicine, Kaohsiung Medical University and Academia Sinica, Taiwan; 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.
³ 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.
⁴ Bioresource Collection and Research Center, Food Industry Research and Development Institute, Hsinchu, 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: [email protected].

PMID: 29034881
DOI: 10.1016/j.scr.2017.09.004

Abstract

Autosomal dominant polycystic kidney disease is one of the most prevalent forms of inherited cystic kidney disease, and can be characterized by kidney cyst formation and enlargement. Here we report the generation of a Type 1 ADPKD disease iPS cell line, IBMS-iPSC-012-12, which retains the conserved deletion of PKD1, normal karyotype and exhibits the properties of pluripotent stem cells such as ES-like morphology, expression of pluripotent markers and capacity to differentiate into all three germ layers. Our results show that we have successfully generated a patient-specific iPS cell line with a mutation in PKD1 for study of renal disease pathophysiology.

Publication types

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

MeSH terms

Adult
Cell Line
Humans
Induced Pluripotent Stem Cells / metabolism*
Male
Mutation
Polycystic Kidney, Autosomal Dominant / genetics*
Polycystic Kidney, Autosomal Dominant / metabolism
Polycystic Kidney, Autosomal Dominant / pathology