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- W3022963217 abstract "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." @default.
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- W3022963217 date "2020-05-01" @default.
- W3022963217 modified "2023-10-15" @default.
- W3022963217 title "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" @default.
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- W3022963217 doi "https://doi.org/10.1016/j.scr.2020.101833" @default.
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