CNGA1基因突变视网膜色素变性患者iPSC细胞系（BTHBIOi001-A）的生成

IF 0.7 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-08-06 DOI:10.1016/j.scr.2025.103798

Ying Wang , Yan-Li Wang , Ming-Xia Du , Zi-Bing Jin , Xiao Zhang

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引用次数: 0

摘要

色素性视网膜炎（RP）是一组由基因突变引起的遗传性视网膜疾病，导致进行性光感受器变性和最终失明。CNGA1基因突变可引起常染色体隐性视网膜色素变性（ARRP）。在这里，我们产生了一个视网膜色素变性患者的人类iPSC系，其基因突变为CNGA1基因(纯合子c.1621G >；一个;p.R 420 >；Q)，通过使用包括OCT4， SOX2， c-Myc和KLF4的非积分集向量系统。经鉴定，该细胞系具有正常的女性核型（46，XX），表达多能性标记，并具有在体外分化为三种胚层的能力。

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Generation of a human iPSC line (BTHBIOi001-A) from a retinitis pigmentosa patient with CNGA1 gene mutation

Retinitis pigmentosa (RP) is a group of inherited retinal disorders caused by genetic mutations, leading to progressive photoreceptors degeneration and eventual blindness. Mutations in CNGA1 can cause autosomal recessive retinitis pigmentosa (ARRP). Here, a human iPSC line of a retinitis pigmentosa patient was generated, with the mutation of CNGA1 gene (homozygous c.1621G > A; p.R 420 > Q), by using a non-integrating episomal vector system including OCT4, SOX2, c-Myc and KLF4. It is identified that the cell line showed a normal female karyotype (46, XX), expressed pluripotency markers, and had the ability to differentiate into three germ layers in vitro.

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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.