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Generation of an iPSC line (GWCMCi002-A) from an X-linked Alport syndrome patient with a hemizygous splicing mutation (NM_000495.4, c. 1517-1 G > T) in the COL4A5 gene.

Stem cell research - 1 May 2021

Gao Xia, Li Guanyu, Deng Hui, Feng Weidong, Li Yue, Liu Ming, Li Yingjie

Abstract excerpt

Pathogenic mutations in the COL4A5 gene are the main causes of X-Linked Alport Syndrome (XLAS). Here, to better understand the pathogenic mechanism of XLAS, we generated an iPSC line (GWCMCi002-A) from the peripheral blood mononuclear cells (PBMCs) of an 8-year-old male XLAS patient with a hemizygous splicing mutation (NM_000495.4, c. 1517-1 G > T) in the COL4A5 gene. This cell line will be beneficial for the...

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Identifiers

PMID: 34088015
DOI: 10.1016/j.scr.2021.102388

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Generation of an iPSC line (GWCMCi002-A) from an X-linked Alport syndrome patient with a hemizygous splicing mutation (NM_000495.4, c. 1517-1 G > T) in the COL4A5 gene.PMID 34088015Read ↗

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Generation of two induced pluripotent stem cell lines from patients with X-linked Alport syndrome.Semantic proximity Read ↗

Establishment of the induced pluripotent stem cell line (NCKDi005-A) from a male patient with Alport syndrome carrying a homozygous frameshift mutation in the COL4A4 gene.Semantic proximity Read ↗

Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS).Semantic proximity Read ↗

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Generation of induced pluripotent stem cell line (NCKDi001-A) from a 19-year-old patient with a novel COL4A5 gene mutation in Alport syndrome.Semantic proximity Read ↗

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The analysis of X-linked Alport syndrome caused by a novel COL4A5 gene aberrant splicingSemantic proximity Read ↗

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