Generation of an induced pluripotent stem cell line (ZSPHARi002-A) from a patient with autosomal dominant polycystic kidney disease carrying a heterozygous PKD1 mutation
Summary
Autosomal dominant polycystic kidney disease (ADPKD), a single-gene-inherited kidney disease, is a common cause of end-stage kidney disease (ESKD). The PKD1 gene mutation is the most common cause of ADPKD, accounting for approximately 78% of cases. ADPKD is characterized by the scattered distribution of multiple cysts in the renal parenchyma, ultimately leading to ESKD. We collected peripheral blood mononuclear cells from a patient with ADPKD who carries a heterozygous PKD1 mutation and reprogrammed them into induced pluripotent stem cells (iPSCs). iPSC lines can provide a valuable resource for studying the pathogenesis of ADPKD and for drug screening purposes. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Zhang Y, Chen Y, Fan J, Lu G, Lv Q, Lao D, Li X |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Feb;82:103643 |
| PubMed | 39742629 |
| DOI | 10.1016/j.scr.2024.103643 |