Generation of the human induced pluripotent stem cell (hiPSC) line PSMi007-A from a Long QT Syndrome type 1 patient carrier of two common variants in the NOS1AP gene

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 journalArticle


We generated human induced pluripotent stem cells (hiPSCs) from a symptomatic Long QT Syndrome (LQTS) type 1 patient, belonging to a South African (SA) founder population segregating the heterozygous mutation c.1022C > T p.A341V on the KCNQ1 gene. The patient is also homozygous for the two minor variants rs4657139 and rs16847548 on the NOS1AP gene, associated with greater risk for cardiac arrest and sudden death in LQTS mutation carriers of the founder population. hiPSCs, obtained using four retroviruses encoding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and can be differentiated into spontaneously beating cardiomyocytes (hiPSC-CMs).

Original languageEnglish
Article number101416
JournalStem Cell Research
Publication statusPublished - Apr 1 2019


ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

Cite this