一组携带敲入变异rs120074178 （KCNQ1 c.569G > a）的转基因长QT综合征诱导的多能干细胞系的产生p.Arg190Gln)和rs137854600 (SCN5A c.4865G > A；p.Arg1622Gln)和等基因控制系

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-06-18 DOI:10.1016/j.scr.2025.103755

Nayara Sousa da Silva , Agnieszka D’Antonio-Chronowska , Reyna Hernandez-Benitez , Angelina Rose McCarron , Esra Karaca , Kai Fang , Juan Carlos Izpisua Belmonte , Athanasia D. Panopoulos , Keiichiro Suzuki , Kelly A. Frazer

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引用次数: 0

摘要

长QT综合征（LQTS）是一种以危及生命的心律失常为特征的遗传性通道病。LQTS有许多由包含突变的基因定义的亚型，包括LQT1 （KCNQ1）、LQT2 （KCNH2）和LQT3 （SCN5A）。在这里，我们使用CRISPR/Cas9技术生成了5个等基因的人类诱导多能干细胞（iPSC）系，其中一个系含有LQT1变体rs120074178 (KCNQ1 c.569G >；A)，两条线路包含LQT3变体rs137854600 (SCN5A c.4865G >；A)，以及两条派生控制线。

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Generation of a set of genetically modified long QT syndrome induced pluripotent stem cell lines carrying knock-in variants rs120074178 (KCNQ1 c.569G > A; p.Arg190Gln) and rs137854600 (SCN5A c.4865G > A; p.Arg1622Gln) and isogenic control lines

Long QT syndrome (LQTS) is an inherited channelopathy characterized by life-threatening arrhythmias. LQTS has many subtypes defined by the gene that contains the mutation, including LQT1 (KCNQ1), LQT2 (KCNH2), and LQT3 (SCN5A). Here, we used CRISPR/Cas9 technology to generate five isogenic human induced pluripotent stem cell (iPSC) lines, one line harboring an LQT1 variant rs120074178 (KCNQ1 c.569G > A), two lines harboring an LQT3 variant rs137854600 (SCN5A c.4865G > A), and two derived control lines.

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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.