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

Research output: Contribution to journalArticle

Abstract

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
Volume36
DOIs
Publication statusPublished - Apr 1 2019

Fingerprint

Romano-Ward Syndrome
Induced Pluripotent Stem Cells
Cell Line
Genes
Long QT Syndrome
Pluripotent Stem Cells
Mutation
Sudden Cardiac Death
Retroviridae
Heart Arrest
Cardiac Myocytes
Population

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

Cite this

@article{20ffa7d638114a1b827d4d0e957745db,
title = "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",
abstract = "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).",
author = "Manuela Mura and Federica Pisano and Manuela Stefanello and Monia Ginevrino and Marina Boni and Federica Calabr{\`o} and Lia Crotti and Valente, {Enza Maria} and Schwartz, {Peter J.} and Brink, {Paul A.} and Massimiliano Gnecchi",
year = "2019",
month = "4",
day = "1",
doi = "10.1016/j.scr.2019.101416",
language = "English",
volume = "36",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",

}

TY - JOUR

T1 - 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

AU - Mura, Manuela

AU - Pisano, Federica

AU - Stefanello, Manuela

AU - Ginevrino, Monia

AU - Boni, Marina

AU - Calabrò, Federica

AU - Crotti, Lia

AU - Valente, Enza Maria

AU - Schwartz, Peter J.

AU - Brink, Paul A.

AU - Gnecchi, Massimiliano

PY - 2019/4/1

Y1 - 2019/4/1

N2 - 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).

AB - 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).

UR - http://www.scopus.com/inward/record.url?scp=85062803541&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85062803541&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2019.101416

DO - 10.1016/j.scr.2019.101416

M3 - Article

VL - 36

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

M1 - 101416

ER -