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;45:101833 |
| PubMed | 32416580 |
| DOI | 10.1016/j.scr.2020.101833 |