期刊
STEM CELL RESEARCH
卷 66, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.scr.2022.103003
关键词
Long QT syndrome; Induced pluripotent stem cells; SNTA1
Long QT syndrome (LQTS) is a genetic cardiovascular disorder characterized by electrical conduction abnormalities, leading to arrhythmia, fainting, seizures, and an increased risk of sudden death. Researchers generated two human-induced pluripotent stem cell (iPSC) lines from LQT patients carrying a mutation in SNTA1 gene. These iPSC lines showed normal properties and pluripotency markers, making them valuable for studying the pathological mechanisms of LQTS related to the SNTA1 variant.
Long QT syndrome (LQTS) is an inherited cardiovascular disorder characterized by electrical conduction abnormalities leading to arrhythmia, fainting, seizures, and an increased risk of sudden death. There are over 15 genes involved in causing LQTS, including SNTA1. Here we generated two human-induced pluripotent stem cell (iPSC) lines from two LQT patients carrying a missense mutation in SNTA1 (c.1088A > C). Both lines showed normal morphological properties, expressed pluripotency markers, showed a normal karyotype profile, and had the ability to differentiate into the three germ layers, making them a valuable tool to model LQTS to investigate the pathological mechanisms related to this SNTA1 variant.
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