Characterization of the first induced pluripotent stem cell line generated from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia due to a heterozygous mutation in cardiac calsequestrin-2

Characterization of the first induced pluripotent stem cell line generated from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia due to a heterozygous mutation in cardiac calsequestrin-2.

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Item Type: Article
Status: Published
Official URL: https://doi.org/10.1016/j.scr.2019.101450
Journal or Publication Title: Stem Cell Research
Volume: 37
Page Range: p. 101450
Date: 2019
Divisions: Molecular Cardiology
Depositing User: General Admin
Identification Number: 10.1016/j.scr.2019.101450
ISSN: 18735061
Date Deposited: 21 Dec 2020 00:47
Abstract:

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmia syndrome characterized by adrenaline induced ventricular tachycardia. The primary genetic aetiologies underlying CPVT are either autosomal dominant or autosomal recessive inheritance, resulting from heterozygous mutations in cardiac ryanodine receptor (RYR2) and homozygous mutations in cardiac calsequestrin-2 (CASQ2), respectively. Recently, a large family with autosomal dominant CPVT due to a heterozygous mutation in CASQ2, p.Lys180Arg, was reported. This resource is the first induced pluripotent stem cell line generated from a patient with autosomal dominant CPVT due to a heterozygous mutation in CASQ2. Induced pluripotent stem cells were generated from the whole blood of a 40-year-old woman with severe CPVT who is heterozygous for the p.Lys180Arg CASQ2 mutation. Induced pluripotent stem cell (iPSC) characterization confirmed expression of pluripotency makers, trilineage differentiation potential, and the absence of exogenous pluripotency vector expression.

Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Creators:
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Ross, Samantha
UNSPECIFIED
Holliday, Mira
UNSPECIFIED
Lim, Seakcheng
UNSPECIFIED
Semsarian, Christopher
UNSPECIFIED
Last Modified: 21 Dec 2020 00:47
URI: https://eprints.centenary.org.au/id/eprint/338

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