Xihao Sun , Shengru Mao , Yuqin Liang , Chunwen Duan , Zekai Cui , Jianing Gu , Bing Jiang , Chengcheng Ding , Jiansu Chen , Shibo Tang
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引用次数: 0
摘要
X 连锁视网膜裂孔症（XLRS）是一种常见的视网膜遗传病，多发于青少年男性，会导致进行性视力损伤。该病表现为双眼黄斑或周边视网膜分裂，目前尚无有效的治疗方法。在这里，我们利用 CRISPR/Cas9 技术将 RS1（c.C304T，p.R102W）突变引入正常的诱导多能干细胞（iPS）系中。这种错义突变与在XLRS患者衍生的iPS细胞系（CSUASOi001-A）中观察到的突变一致。最终，建立定向基因突变细胞系（CSUi007-A）为研究XLRS发病机制提供了有用的细胞资源。
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) 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.
期刊介绍：
Stem Cell Research is dedicated to publishing high-quality manuscripts focusing on the biology and applications of stem cell research. Submissions to Stem Cell Research, may cover all aspects of stem cells, including embryonic stem cells, tissue-specific stem cells, cancer stem cells, developmental studies, stem cell genomes, and translational research. Stem Cell Research publishes 6 issues a year.
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