Literature DB >> 34411974

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.

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

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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


  5 in total

1.  1970-2020: 50 years of research on the long QT syndrome-from almost zero knowledge to precision medicine.

Authors:  Peter J Schwartz
Journal:  Eur Heart J       Date:  2021-03-14       Impact factor: 29.983

Review 2.  Precision Medicine Approaches to Cardiac Arrhythmias: JACC Focus Seminar 4/5.

Authors:  John R Giudicessi; Michael J Ackerman; Diane Fatkin; Jason C Kovacic
Journal:  J Am Coll Cardiol       Date:  2021-05-25       Impact factor: 24.094

Review 3.  Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as Models for Cardiac Channelopathies: A Primer for Non-Electrophysiologists.

Authors:  Priyanka Garg; Vivek Garg; Rajani Shrestha; Michael C Sanguinetti; Timothy J Kamp; Joseph C Wu
Journal:  Circ Res       Date:  2018-07-06       Impact factor: 17.367

4.  Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene.

Authors:  James W S Jahng; Katelyn E Black; Lichao Liu; Hye Ryeong Bae; Marco Perez; Euan A Ashley; Karim Sallam; Joseph C Wu
Journal:  Stem Cell Res       Date:  2021-03-12       Impact factor: 2.020

Review 5.  Diagnosis, management and therapeutic strategies for congenital long QT syndrome.

Authors:  Arthur A M Wilde; Ahmad S Amin; Pieter G Postema
Journal:  Heart       Date:  2021-05-26       Impact factor: 5.994

  5 in total

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