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.
2020
Abstract 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.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
3
References
0
Citations
NaN
KQI