Generation of a human-induced pluripotent stem cell line (NUMNi003-A) from a patient with autosomal dominant polycystic kidney disease harboring a PKD1 gene variant
Summary
PKD1 variants are risk factors for autosomal dominant polycystic kidney disease (ADPKD). However, the detailed mechanisms by which PKD1 variants cause ADPKD remain unclear. Currently, there are no curative treatments for ADPKD. We generated induced pluripotent stem cells (iPSCs) from a patient with ADPKD and a PKD1 variant. These iPSCs expressed stem cell markers and could differentiate into the three germ layers in vitro. The iPSCs will serve as useful tools for understanding the pathophysiology of ADPKD and for screening therapeutic approaches. Copyright © 2026 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Tanaka A, Furuhashi K, Horinouchi A, Fujieda K, Matsumoto J, Hattori K, Onogi C, Kawazoe T, Kato A, Watanabe Y, Koshi-Ito E, Kato N, Kushima I, Ozaki N, Maruyama S |
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| Journal | Stem cell research |
| Publication Date | 2026 Mar 16;93:103967 |
| PubMed | 41850000 |
| DOI | 10.1016/j.scr.2026.103967 |