Induced pluripotent stem cells derived from an autosomal dominant polycystic kidney disease patient carrying a PKD1 Q533X mutation
Summary
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. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Lee JJ, Ho MC, Huang CY, Wen CH, Cheng YC, Hsu YH, Hwang DY, Lu HE, Chen HC, Hsieh PCH |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2017 Dec;25:83-87 |
| PubMed | 29121521 |
| DOI | 10.1016/j.scr.2017.10.026 |