Hang Chen , Yuqin Liang , Yuexi Chen , Yuan Liang , Xiaoxue Li , Chunwen Duan , Zekai Cui , Jianing Gu , Chengcheng Ding , Xihao Sun , Jiansu Chen
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引用次数: 0
Abstract
Mutations in the PRPF8 gene frequently result in retinitis pigmentosa (RP), an autosomal dominant inherited retinal disease that can lead to nyctalopia and progressive vision loss. Currently, no effective treatment is available. In this study, we used CRISPR/Cas9 technology to introduce a heterozygous point mutation in the PRPF8 gene of a normal induced pluripotent stem cell (iPSC) line. This mutation mirrors that found in a previously reported RP patient-derived iPSC line (CSUASOi006-A) from our group. Establishing the PRPF8 gene mutation cell line (CSUASOi012-A-2) provides a valuable cellular resource for studying the pathogenesis of RP.
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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