Zhang Yeye, Chen Ye, Fan Jun, Lu Guangzhao, Lv Qianzhou, Lao Donghui, Li Xiaoyu
Department of Pharmacy, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
Department of Pharmacy, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
Stem Cell Res. 2025 Feb;82:103643. doi: 10.1016/j.scr.2024.103643. Epub 2024 Dec 24.
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.
常染色体显性多囊肾病（ADPKD）是一种单基因遗传性肾病，是终末期肾病（ESKD）的常见病因。PKD1基因突变是ADPKD最常见的病因，约占病例的78%。ADPKD的特征是肾实质内多个囊肿散在分布，最终导致ESKD。我们从一名携带杂合性PKD1突变的ADPKD患者身上收集外周血单个核细胞，并将其重编程为诱导多能干细胞（iPSC）。iPSC系可为研究ADPKD的发病机制和药物筛选提供宝贵资源。
