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

Manuela Mura, Federica Pisano, Manuela Stefanello, Monia Ginevrino, Marina Boni, Federica Calabrò, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Paul A. Brink, Massimiliano Gnecchi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Number of pages1
JournalStem Cell Research
Volume39
DOIs
Publication statusPublished - Aug 1 2019

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

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