Generation of three induced pluripotent stem cell lines (SCVIi014-A, SCVIi015-A, and SCVIi016-A) from patients with LQT1 caused by heterozygous mutations in the KCNQ1 gene


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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Zhang H, Jahng JWS, Liu Y, Chase AJ, Perez MV, Wu JC
Journal Stem cell research
Publication Date 2021 Aug;55:102492
PubMed 34411974
PubMed Central PMC9482789
DOI 10.1016/j.scr.2021.102492

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