Introduction of an RS1 mutation causative variant consistent with identified XLRS patient using CRISPR/Cas9 technology in normal iPSC

X-linked retinoschisis (XLRS) is a common retinal genetic disease that occurs in juvenile males and causes progressive visual impairment. This presents a schisis in the macula or peripheral retina of bilateral eyes, which has no effective treatment. Here, we introduced the RS1 (c.C304T, p.R102W) mut...

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Published inStem cell research Vol. 81; p. 103549
Main Authors Sun, Xihao, Mao, Shengru, Liang, Yuqin, Duan, Chunwen, Cui, Zekai, Gu, Jianing, Jiang, Bing, Ding, Chengcheng, Chen, Jiansu, Tang, Shibo
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.12.2024
Elsevier
Subjects
Cell Line
CRISPR-Cas Systems - genetics
Eye Proteins - genetics
Eye Proteins - metabolism
Humans
Induced Pluripotent Stem Cells - metabolism
Male
Mutation
Retinoschisis - genetics
Retinoschisis - pathology
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Summary:X-linked retinoschisis (XLRS) is a common retinal genetic disease that occurs in juvenile males and causes progressive visual impairment. This presents a schisis in the macula or peripheral retina of bilateral eyes, which has no effective treatment. Here, we introduced the RS1 (c.C304T, p.R102W) mutation into a normal induced pluripotent stem (iPS) cell line using CRISPR/Cas9 technology. This missense mutation was consistent with that observed in the XLRS patient-derived iPS cell line (CSUASOi001-A). Conclusively, establishing a directed gene mutation cell line (CSUi007-A) provides a useful cell resource to investigate XLRS pathogenesis.
Bibliography:ObjectType-Article-1
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content type line 23
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103549