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Generation of the human induced pluripotent stem cell (hiPSC) line PSMi006-A from a patient affected by an autosomal recessive form of long QT syndrome type 1

Authors :
Francesca Bastaroli
Manuela Mura
Monia Ginevrino
Massimiliano Gnecchi
Marina Boni
Enza Maria Valente
Federica Calabrò
Lia Crotti
Marzia Corli
Peter J. Schwartz
Mura, M
Bastaroli, F
Corli, M
Ginevrino, M
Calabrò, F
Boni, M
Crotti, L
Valente, E
Schwartz, P
Gnecchi, M
Source :
Stem Cell Research, Vol 42, Iss, Pp-(2020)
Publication Year :
2019

Abstract

We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a 40 years old female patient homozygous for the mutation c.535 G > A p.G179S on the KCNQ1 gene, causing a severe form of autosomal recessive Long QT Syndrome type 1 (AR-LQT1). The hiPSCs, generated using classical approach of the four retroviruses enconding the reprogramming factors OCT4, SOX2, cMYC and KLF4, display pluripotent stem cell characteristics, and differentiate into cell lineages of all three germ layers: endoderm, mesoderm and ectoderm. Keywords: Endoderm, Mesoderm, Ectoderm

Details

ISSN :
18767753
Volume :
42
Database :
OpenAIRE
Journal :
Stem cell research
Accession number :
edsair.doi.dedup.....edc5b7f20d81087a1f7f4ad77ffa8e62