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
Summary
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 |