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.
Mura, M., Pisano, F., Stefanello, M., Ginevrino, M., Boni, M., Calabrò, F., et al. (2019). Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population. STEM CELL RESEARCH, 39 [10.1016/j.scr.2019.101510].
Generation of two human induced pluripotent stem cell (hiPSC) lines from a long QT syndrome South African founder population
Crotti L;
2019
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.File | Dimensione | Formato | |
---|---|---|---|
Mura 2019 South African.pdf
accesso aperto
Tipologia di allegato:
Author’s Accepted Manuscript, AAM (Post-print)
Dimensione
1.66 MB
Formato
Adobe PDF
|
1.66 MB | Adobe PDF | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.