Generation of an urine-derived induced pluripotent stem cell line from a 5-year old X-linked Alport syndrome (X-LAS) patient


The gene mutations of the collagen type IV alpha 5 chain (COL4A5) can lead to the inherited haematuria to end-stage renal disease X-linked Alport syndrome (X-LAS). The urine cells of a 5-year-old male X-LAS patient carrying a hemizygous COL4A5 gene mutation p.G1433V (c.4298G>T) were reprogrammed to induced pluripotent stem cells (iPSCs) with Sendai virus reprogramming kit containing OCT4, SOX2, c-MYC, and KLF4 Yamanaka factors. The generated iPSC line WMUi015-A stably expressed pluripotent markers, maintained a normal karyotype (46, XY), and had differentiation potential into three germ layers in vitro. Copyright © 2020. Published by Elsevier B.V.

Authors Guo X, Ji W, Niu C, Ding Y, Chen Z, Chen C, Tong H, Han Z, Chu M
Journal Stem cell research
Publication Date 2020 Dec;49:102085
PubMed 33202306
DOI 10.1016/j.scr.2020.102085

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