Article
Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene.
Stem cell research - 1 Mar 2020
Mao Shengru, Ding Chengcheng, Zhou Yalan, Jing Yutong, Chen Juan, Guo Yonglong, Liu Jian, Cui Zekai, Yan Xin, Gu Jianing, Wang Yini, Chen Jiansu, Tang Shibo
Abstract excerpt
X-linked retinoschisis (XLRS) is a one of most common retinal genetic diseases of juvenile progressive vitreoretinal degeneration in males, which caused by the mutation of RS1 gene. In this study, an induced pluripotent stem cell (iPSC) line was generated from human peripheral blood mononuclear cells (PBMC) of a 13-year-old male patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene....
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