Generation of an induced pluripotent stem cell line, IBMS-iPSC-014-05, from a female autosomal dominant polycystic kidney disease patient carrying a common mutation of R803X in PKD2

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

doi:10.1016/j.scr.2017.10.005

Generation of an induced pluripotent stem cell line, IBMS-iPSC-014-05, from a female autosomal dominant polycystic kidney disease patient carrying a common mutation of R803X in PKD2

Stem Cell Res. 2017 Dec:25:38-41. doi: 10.1016/j.scr.2017.10.005. Epub 2017 Oct 10.

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 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: [email protected].

PMID: 29055226
DOI: 10.1016/j.scr.2017.10.005

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most commonly inherited forms of polycystic kidney disease, and is characterized by the growth of numerous cysts in both kidneys. Here we generated an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of a 63-year-old female ADPKD patient carrying an R803X mutation in the PKD2 gene using the Sendai-virus delivery system. Downstream characterization of these iPSCs showed that they possessed normal karyotyping, were free of genomic integration, retained the disease-causing PKD2 mutation, expressed pluripotency markers and could differentiate into three germ layers.

Publication types

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

MeSH terms

Cells, Cultured
Embryoid Bodies / cytology
Embryoid Bodies / metabolism
Female
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism*
Karyotyping
Mutation
Polycystic Kidney, Autosomal Dominant / metabolism*
TRPP Cation Channels / genetics
TRPP Cation Channels / metabolism

Substances

TRPP Cation Channels
polycystic kidney disease 2 protein