Generation of an induced pluripotent stem cell line (NCKDi006-A) from a 34-year-old patient with focal segmental glomerulosclerosis carrying a heterozygous mutation in the TRPC6 gene

IF 0.7 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Stem cell research Pub Date : 2025-02-20 DOI:10.1016/j.scr.2025.103687
Yiqing Wang , Minghao Yu , Zhihong Liu , Gang Wang
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Abstract

Focal segmental glomerulosclerosis (FSGS) is a common pathological nephrotic syndrome. The ion channel protein TRPC6 is associated mainly with the late-onset form of autosomal dominant familial FSGS. We identified a heterozygous mutation in the TRPC6 gene in an FSGS patient with a family history of end-stage renal disease (ESRD). Peripheral blood mononuclear cells (PBMCs) were obtained from the patient, and induced pluripotent stem cell (iPSC) lines were successfully generated. The establishment of these iPSC lines will provide a basis for further research into the pathogenesis of this condition.
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从一名携带TRPC6基因杂合突变的34岁局灶节段性肾小球硬化患者身上获得诱导多能干细胞系(NCKDi006-A)
局灶节段性肾小球硬化(FSGS)是一种常见的病理性肾病综合征。离子通道蛋白TRPC6主要与晚发型常染色体显性家族性FSGS相关。我们在一名有终末期肾病(ESRD)家族史的FSGS患者中发现了TRPC6基因的杂合突变。获得患者外周血单个核细胞(PBMCs),成功生成诱导多能干细胞(iPSC)系。这些iPSC系的建立将为进一步研究这种疾病的发病机制提供基础。
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来源期刊
Stem cell research
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.
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