Work

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

Year: 2025

Type: article

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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2025.103687

Authors: Yiqing Wang, Minghao Yu, Zhihong Liu, Gang Wang

Institutions: Zhejiang University, Nanjing University, Nanjing General Hospital of Nanjing Military Command

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,360