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

生成并表征无整合 iPSC 系 SDUBMSi006-A,该 iPSC 系由患有 COL4A3 基因突变的 Alport 综合征的患者所致

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

Abstract

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 pluripotency markers, has normal karyotype, and is capable of differentiating into all three germ layers in vitro.

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