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

Summary

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. The iPSCs exhibited iPSC morphology, expression of the pluripotency markers and in vitro differentiation potential, and the CSUASOi005-A iPSC line retained the original mutation (c.527T > A) of RS1 with a normal karyotype. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Mao S, Ding C, Zhou Y, Jing Y, Chen J, Guo Y, Liu J, Cui Z, Yan X, Gu J, Wang Y, Chen J, Tang S
Journal Stem cell research
Publication Date 2020 Feb 4;43:101718
PubMed 32050117
DOI 10.1016/j.scr.2020.101718

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