Generation of an induced pluripotent stem cell line (SHCDNRi001-A) from a patient with X-linked Alport syndrome carrying a heterozygous p.G409S (c. 1225 G > A) mutation in the COL4A5 gene

Summary

X-linked Alport syndrome (XLAS) is a rare form of hereditary nephritis caused by mutations in the COL4A5 gene encoding the type IV collagen α5 chain. A skin biopsy was performed on one female patient with XLAS who carried a heterozygous p.G409S (c. 1225 G > A) mutation in the COL4A5 gene. A human-induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts using the integrating free Sendai virus technique. The generated iPSC line SHCDNRi001-A offers an efficient resource to research pathogenic mechanisms in XLAS, as well as a cell-based disease model for drug testing or other treatments. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Sun L, Zhang J, Kuang XY, Kang YL, Wu Y, Huang WY
Journal Stem cell research
Publication Date 2020 May 6;45:101833
PubMed 32416580
DOI 10.1016/j.scr.2020.101833

Research Projects

Cell Lines