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.

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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
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article

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

Y.-Z. Zhang, D. Lao, Ye Chen, Xiaoyu Li et al.
Stem Cell Research
Genetic and Kidney Cyst Diseases
article

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

Y.-Z. Zhang, D. Lao, Ye Chen, Xiaoyu Li, Qianzhou Lv, Guangzhao Lu, Jun Fan
article en

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.

Stem Cell ResearchVol. 82
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)
Good health and well-being
Openalex Percentile: Top 73%
Genetic and Kidney Cyst Diseases
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Generation of an induced pluripotent stem cell line (ZSPHARi002-A) from a patient with autosomal dominant polycystic kidney disease carrying a heterozygous PKD1 mutation — Y.-Z. Zhang, D. Lao, et al. · Stem Cell Research (2024) | TGRS Research Map | TGRS