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

Stem cell research - 1 Apr 2021

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

Abstract excerpt

Alport syndrome (AS) is a hereditary kidney disease caused by mutations in COL4A3, COL4A4, or COL4A5 genes. Here we report the generation of an induced pluripotent stem cell line (iPSC) from an AS patient carrying compound heterozygote mutations (c.4243G > C and c.4216G > A) in COL4A3 gene using non-integrative reprogramming technology. The established iPSC line demonstrates hESC morphology, expresses...

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Autoantigens
Collagen Type IV
Induced Pluripotent Stem Cells
Mutation
Nephritis, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33601099
DOI: 10.1016/j.scr.2021.102237

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Generation and characterization of an integration-free iPSC line SDUBMSi006-A from a patient with Alport syndrome caused by COL4A3 gene mutations.PMID 33601099Read ↗

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