Establishment of CSUASOi001-A, a non-integrated induced pluripotent stem cell line from urine-derived cells of a Chinese patient carrying RS1 gene mutation


X-linked juvenile retinoschisis (XLRS) is one of the most severely affected genetic causes of irreversible retinal degeneration diseases in young males, especially school-age boys. Here, we generated induced pluripotent stem cells (iPSCs) from a Chinese 11-year-old male with clinically diagnosed XLRS. Urine sample was collected with appropriate cooperation, then isolated cells were expanded for subsequent reprogramming procedure using integration-free Sendai virus. The newly derived CSUASOi001-A iPS cell line harboring the c.304C > T mutation in the RS1 gene (p.R102W) provides a useful resource to investigate pathogenic mechanisms in XLRS. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Yan X, Guo Y, Chen J, Cui Z, Gu J, Wang Y, Mao S, Ding C, Chen J, Tang S
Journal Stem cell research
Publication Date 2019 Jul;38:101466
PubMed 31141763
DOI 10.1016/j.scr.2019.101466

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