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Article

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

Stem cell research - 1 May 2021

Ma Yanyan, Wang Zhendong, Gao Min, Liu Xiaolin, Sun Wenjie, Gong Yaoqin, Sun Gongping, Liu Guangyi

Abstract excerpt

Mutations in COL4A5 on chromosome Xq22 cause X-linked Alport syndrome (XLAS). In this study, we generated two human induced pluripotent stem cell (iPSC) lines from two male patients carrying mutation c.796C > T (p.R266X) in COL4A5 gene. The two iPSC lines retain the original mutation, possess normal karyotypes, express pluripotency markers and bear differentiation potential.

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Identifiers

PMID: 33878711
DOI: 10.1016/j.scr.2021.102343

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Research trail→

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Generation of two induced pluripotent stem cell lines from patients with X-linked Alport syndrome.PMID 33878711Read ↗

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

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.Semantic proximity Read ↗

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

Generation of a COL4A5 heterozygous mutation human embryonic stem cell line (WAe009-A-58) using an episomal vector-based CRISPR/Cas9 system.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Generation and characterization of an integration-free iPSC line SDUBMSi006-A from a patient with Alport syndrome caused by COL4A3 gene mutations.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 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 ↗

Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN).Semantic proximity Read ↗

Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS).Semantic proximity Read ↗

Generation of the induced pluripotent stem cell line (NCKDi004-A) from a 17-year-old patient with Alport syndrome carrying a homozygous mutation in COL4A3 gene.Semantic proximity Read ↗

Generation of induced pluripotent stem cell (iPSC) line from a 21-year-old X-linked adrenoleukodystrophy (X-ALD) patient.Semantic proximity Read ↗

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