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

Abstract：

: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.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Mura M,Pisano F,Stefanello M,Ginevrino M,Boni M,Calabrò F,Crotti L,Valente EM,Schwartz PJ,Brink PA,Gnecchi M

doi

10.1016/j.scr.2019.101510

subject

Has Abstract

pub_date

2019-08-01 00:00:00

pages

101510

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(19)30140-0

journal_volume

39

pub_type

杂志文章

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