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

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 distributio...

Full description

Saved in:
Bibliographic Details
Published in:Stem cell research 2025-02, Vol.82, p.103643, Article 103643
Main Authors: Zhang, Yeye, Chen, Ye, Fan, Jun, Lu, Guangzhao, Lv, Qianzhou, Lao, Donghui, Li, Xiaoyu
Format: Article
Language:English
Subjects:
Cell Differentiation
Cell Line
Heterozygote
Humans
Induced Pluripotent Stem Cells - metabolism
Male
Mutation
Polycystic Kidney, Autosomal Dominant - genetics
Polycystic Kidney, Autosomal Dominant - pathology
TRPP Cation Channels - genetics
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
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.
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103643