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 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.
Authors
- Y.-Z. Zhang
- D. Lao
- Ye Chen (ORCID: https://orcid.org/0000-0001-6463-6647)
- Xiaoyu Li (ORCID: https://orcid.org/0000-0003-3890-8332)
- Qianzhou Lv (ORCID: https://orcid.org/0000-0003-1894-4248)
- Guangzhao Lu (ORCID: https://orcid.org/0000-0003-4870-4771)
- Jun Fan (ORCID: https://orcid.org/0000-0002-0472-1089)
Institutions
- Sun Yat-sen University (CN)
- Second Military Medical University (CN)
- Fudan University (CN)
- Zhongshan Hospital (CN)
- The First Affiliated Hospital, Sun Yat-sen University (CN)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2024-12-24
- DOI
- https://doi.org/10.1016/j.scr.2024.103643
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00