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

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.

DOI: 10.1016/j.scr.2017.10.026

Cite this paper

@article{Lee2017InducedPS, title={Induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient carrying a PKD1 Q533X mutation.}, author={Jia-Jung Lee and Ming-Ching Ho and Ching-Ying Huang and Cheng-Hao Wen and Yu-Che Cheng and Yu-Hung Hsu and Daw-Yang Hwang and Huai-En Lu and Hung-Chun Chen and Patrick Ching-Ho Hsieh}, journal={Stem cell research}, year={2017}, volume={25}, pages={83-87} }