CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2024-10-14 DOI:10.1016/j.scr.2024.103581

Yuqin Liang , Xihao Sun , Hang Chen , Zekai Cui , Jianing Gu , Chunwen Duan , Shengru Mao , Yuexi Chen , Xiaoxue Li , Siqi Xiong , Jiansu Chen

引用次数: 0

Abstract

PRPF6, located on chromosome 20, is required for the formation of the spliceosome. Mutations in the PRPF6 gene can lead to retinitis pigmentosa (RP), a common inherited retinal disease characterized by progressive degeneration of retinal pigment epithelium and photoreceptors. Here, we generated an induced pluripotent stem cell (iPSC) line carrying the PRPF6 c.2699 G > A mutation using CRISPR/Cas9 technology, which will provide a valuable resource for RP pathogenesis and treatment research.

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通过 CRISPR/Cas9 介导，产生具有 PRPF6 c.2699 G > A 突变的人类诱导多能干细胞系，以建立视网膜色素变性模型

位于 20 号染色体上的 PRPF6 是剪接体形成所必需的。PRPF6基因突变可导致色素性视网膜炎（RP），这是一种常见的遗传性视网膜疾病，其特征是视网膜色素上皮细胞和感光细胞进行性变性。在这里，我们利用 CRISPR/Cas9 技术生成了携带 PRPF6 c.2699 G > A 突变的诱导多能干细胞（iPSC）系，这将为 RP 发病机制和治疗研究提供宝贵的资源。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Stem cell research 生物-生物工程与应用微生物

CiteScore

2.20

自引率

8.30%

发文量

338

审稿时长

55 days

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.