| Literature DB >> 34411974 |
Hao Zhang1, James W S Jahng1, Yu Liu1, Amanda J Chase1, Marco V Perez2, Joseph C Wu3.
Abstract
Congenital long QT syndrome type 1 (LQT1) results from KCNQ1 mutations that cause loss of Kv7.1 channel function, leading to arrhythmias, syncope, and sudden cardiac death. Here, we generated three human-induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of LQT1 patients carrying pathogenic variants (c.569 G>A, c.585delG, and c.573_577delGCGCT) in KCNQ1. All lines show typical iPSC morphology, high expression of pluripotent markers, normal karyotype, and are able to differentiate into three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of LQT1 caused by KCNQ1 mutations.Entities:
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Year: 2021 PMID: 34411974 PMCID: PMC9482789 DOI: 10.1016/j.scr.2021.102492
Source DB: PubMed Journal: Stem Cell Res ISSN: 1873-5061 Impact factor: 1.587