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Establishment of an induced pluripotent stem cell line from a patient with X-linked Alport syndrome carrying a hemizygous splicing variant (NM_033380; c.929[exon 16]delG) in the collagen type IV alpha 5 chain gene

Authors :
Denglu Zhang
KaiLin Li
XianZhen Yang
Haitao Wang
Xin Yu
Source :
Stem Cell Research, Vol 80, Iss , Pp 103488- (2024)
Publication Year :
2024
Publisher :
Elsevier, 2024.

Abstract

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.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
80
Issue :
103488-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.4da71b8506374f9d88f413f640884318
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2024.103488