Generation of an induced pluripotent stem cell line (ZSPHARi002-A) from a patient with autosomal dominant polycystic kidney disease carrying a heterozygous PKD1 mutation

Yeye Zhang; Ye Chen; Jun Fan; Guangzhao Lu; Qianzhou Lv; Donghui Lao; Xiaoyu Li

doi:10.1016/j.scr.2024.103643

Generation of an induced pluripotent stem cell line (ZSPHARi002-A) from a patient with autosomal dominant polycystic kidney disease carrying a heterozygous PKD1 mutation

Stem Cell Res. 2024 Dec 24:82:103643. doi: 10.1016/j.scr.2024.103643. Online ahead of print.

Authors

Yeye Zhang¹, Ye Chen², Jun Fan², Guangzhao Lu³, Qianzhou Lv², Donghui Lao⁴, Xiaoyu Li⁵

Affiliations

¹ Department of Pharmacy, Zhongshan Hospital, Fudan University, Shanghai 200032, China. Electronic address: [email protected].
² Department of Pharmacy, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
³ Department of Pharmaceutical Sciences, School of Pharmacy, Second Military Medical University, Shanghai 200433, China.
⁴ Department of Pharmacy, Zhongshan Hospital, Fudan University, Shanghai 200032, China. Electronic address: [email protected].
⁵ Department of Pharmacy, Zhongshan Hospital, Fudan University, Shanghai 200032, China. Electronic address: [email protected].

PMID: 39742629
DOI: 10.1016/j.scr.2024.103643

Abstract

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.