Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population


We generated PSMi001-A and PSMi008-A hiPSC lines from two individuals belonging to a South African (SA) founder population in which the malignant KCNQ1-A341V mutation cosegregates with the Long QT Syndrome (LQTS) phenotype. PSMi001-A was derived from an asymptomatic KCNQ1-A341V mutation carrier, whereas PSMi008-A was derived from a healthy non-mutation carrier, heterozygous for the minor variant rs16847548 on the NOS1AP gene, associated with QT prolongation in the general population, and with a greater risk for cardiac arrest in the affected members of the SA founder population. The hiPSCs, generated using the Yamanaka's retroviruses, display pluripotent stem cell features and trilineage differentiation potential. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Mura M, Pisano F, Stefanello M, Ginevrino M, Boni M, Calabrò F, Crotti L, Valente EM, Schwartz PJ, Brink PA, Gnecchi M
Journal Stem cell research
Publication Date 2019 Aug;39:101510
PubMed 31398660
DOI 10.1016/j.scr.2019.101510

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