Generation of a gene-corrected isogenic iPSC cell line from an X-linked retinoschisis patient with a hemizygous mutation c.304C > T (p.R102W) in RS1 gene
Summary
X-linked retinoschisis (XLRS) is one of the most common retinal genetic diseases with progressive visual impairment in childhood affecting males. It is manifested with macular and/or peripheral schisis in neural retinas with no effective treatment. Previously, we successfully generated a human-induced pluripotent stem cell (iPSC) line from an XLRS patient carrying the hemizygous RS1 c. 304C > T (p.R102W) mutation. Here, we corrected the c.304C > T mutation in the RS1 gene using CRISPR/Cas9 technology to generate an isogenic control. This cell line is valuable for the study of XLRS. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Mao S, Sun X, Duan C, Jiang B, Ma H, Ji S, Liang Y, Zhang R, Chen J, Tang S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Dec;73:103263 |
| PubMed | 38011758 |
| DOI | 10.1016/j.scr.2023.103263 |