诱导多能干细胞
阿尔波特综合征
生物
外显子
细胞培养
外周血单个核细胞
胚芽层
基因
HEK 293细胞
癌症研究
细胞生物学
分子生物学
遗传学
体外
肾小球肾炎
胚胎干细胞
肾
作者
Denglu Zhang,Kailin Li,Xianzhen Yang,Haitao Wang,Xin Yu
标识
DOI:10.1016/j.scr.2024.103488
摘要
X-linked hereditary Alport syndrome (XLAS) type 1 (OMIM: 301050) results from a pathogenic variant in the collagen type IV alpha 5 chain (COL4A5) gene.A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 7-year-old male patient with XLAS using non-integrating episomal vector technique. The male donor had a heterozygous variant in the COL4A5 gene. The resulting iPSC line has a standard karyotype, can express pluripotent biomarkers, and is able to create germ layers in vivo. It can serve as a valuable cellular model for investigating the underlying mechanisms of XLAS.
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