由携带KCNH2突变（c. 2690 a > c）的患者产生的人诱导多能干细胞系XXMUFAi001-A。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research Pub Date : 2025-02-01 DOI:10.1016/j.scr.2024.103635

Xiaolei Li , Junbiao Zhang , Xiaofeng Wang , Dawei Pu , Zhenling Zhang , Yifang Niu , Shuai Zhang , Zhenping Fan , Yuxuan Li , Peicheng Li , Hui Liu , Fenghua Lv , Yongchun Zhang , Ya’nan Li

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引用次数: 0

摘要

2型长QT综合征（LQT2）由KCNH2基因突变引起，是一种与青少年猝死相关的遗传性离子通道障碍。在这项研究中，我们使用非整合的仙台重编程技术从携带杂合点突变（c.2690）的个体中生成了患者特异性诱导多能干细胞（iPSC）系XXMUFAi001-A在KCNH2中的>C)。XXMUFAi001-A细胞系表现出多能性标记的表达，并在体内表现出畸胎瘤形成能力，以及向所有三种胚层分化的潜力。XXMUFAi001-A的建立对于研究LQT2的发病机制和药物筛选具有重要意义。

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Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C)

Long QT syndrome type 2 (LQT2), caused by mutations in the KCNH2 gene, is an inherited ion channel disorder associated with sudden death in adolescents. In this study, we generated a patient-specific induced pluripotent stem cell (iPSC) line XXMUFAi001-A using non-integrative Sendai reprogramming technology from an individual carrying a heterozygous point mutation (c.2690 A>C) in KCNH2. XXMUFAi001-A cell line exhibited expression of pluripotency markers and demonstrated teratoma formation capability in vivo, as well as the potential to differentiate into all three germ layers. The establishment of XXMUFAi001-A is crucial for investigating the pathogenesis and drug screening of LQT2.

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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.