Generation of two induced pluripotent stem cell lines from patients with X-linked Alport syndrome
Yanyan Ma1, Zhendong Wang2, Min Gao3
1Key Laboratory of Experimental Teratology, Ministry of Education, Institute of Molecular Medicine and Genetics, School of Basic Medical Sciences, Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China.
Abstract:
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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