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.
Adaptor Proteins, Signal Transducing
/ genetics
Cell Differentiation
Cell Line
Cellular Reprogramming Techniques
DNA Mutational Analysis
Female
Heterozygote
Homozygote
Humans
Induced Pluripotent Stem Cells
KCNQ1 Potassium Channel
/ genetics
Karyotype
Kruppel-Like Factor 4
Middle Aged
Romano-Ward Syndrome
/ genetics
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
04 2019
04 2019
Historique:
received:
28
01
2019
revised:
27
02
2019
accepted:
05
03
2019
pubmed:
17
3
2019
medline:
11
4
2020
entrez:
17
3
2019
Statut:
ppublish
Résumé
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).
Identifiants
pubmed: 30878014
pii: S1873-5061(19)30046-7
doi: 10.1016/j.scr.2019.101416
pii:
doi:
Substances chimiques
Adaptor Proteins, Signal Transducing
0
KCNQ1 Potassium Channel
0
KCNQ1 protein, human
0
KLF4 protein, human
0
Kruppel-Like Factor 4
0
NOS1AP protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
101416Informations de copyright
Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.