从携带杂合子PKD1突变的常染色体显性多囊肾病患者获得诱导多能干细胞系（ZSPHARi002-A）

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-02-01 Epub Date: 2024-12-24 DOI:10.1016/j.scr.2024.103643

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

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引用次数: 0

摘要

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最常见的原因，约占病例的78%。ADPKD的特点是肾实质内分散分布多个囊肿，最终导致ESKD。我们收集了一名携带PKD1杂合突变的ADPKD患者的外周血单个核细胞，并将其重新编程为诱导多能干细胞（iPSCs）。iPSC细胞系可为研究ADPKD的发病机制和药物筛选提供宝贵的资源。

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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.

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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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

期刊介绍： Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.