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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.

Stem cell research - 1 Oct 2021

Wu Hangdi, Wang Gang, Gao Erzhi, Zhang Li, Zhu Yuqing, Zhang Jin, Liu Zhihong

Abstract excerpt

Alport syndrome is the second most common genetic renal disease which caused by mutations in COL4A3/COL4A4/COL4A5, according to different modes of inheritance. Recently, we identified a novel homozygous mutation in COL4A3 gene in a patient with Alport syndrome. The Peripheral Blood Mononuclear Cells (PBMCs) of the patient were obtained and a line of induced pluripotent stem cells (iPSCs) was successfully...

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Identifiers

PMID: 34626894
DOI: 10.1016/j.scr.2021.102557

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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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.PMID 34626894Read ↗

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 and characterization of an integration-free iPSC line SDUBMSi006-A from a patient with Alport syndrome caused by COL4A3 gene mutations.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 an urine-derived induced pluripotent stem cell line from a 5-year old X-linked Alport syndrome (X-LAS) patient.Semantic proximity Read ↗

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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.Semantic proximity Read ↗

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

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