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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.

Stem cell research - 1 Dec 2020

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

Abstract excerpt

The clinical manifestations of Alport syndrome may vary depending on the involved organs such as the kidneys, cochlea and eyes. The pathogenic genes involved are those encoding different chains of type IV collagen. We collected PBMCs of a patient with a novel COL4A5 gene mutation(c.2687G > C). Subsequently, we used the electroporation system to transfer the reprogramming plasmids expressing OCT3/4, SOX2, KLF4,...

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Identifiers

PMID: 33128955
DOI: 10.1016/j.scr.2020.102023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Research trail→

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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.PMID 33128955Read ↗

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

Generation of an induced pluripotent stem cell line (ZJUi007-A) from a 11-year-old patient of Fabry disease.Semantic proximity Read ↗

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

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

Genotypic Characterization of a Chinese Family with Osteogenesis Imperfecta and Generation of Disease-Specific Induced Pluripotent Stem Cells.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 of induced pluripotent stem cell line (RCMGi001-A) from human skin fibroblasts of a cystic fibrosis patient with p.F508del mutation.Semantic proximity Read ↗

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