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

Manuela Mura, Francesca Bastaroli, Marzia Corli, Monia Ginevrino, Federica Calabrò, Marina Boni, Lia Crotti, Enza Maria Valente, Peter J. Schwartz, Massimiliano Gnecchi

Research output: Contribution to journalArticle

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.

Original languageEnglish
Article number101658
JournalStem Cell Research
Volume42
DOIs
Publication statusPublished - Jan 2020

Keywords

  • Ectoderm
  • Endoderm
  • Mesoderm

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

Cite this

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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 = "Ectoderm, Endoderm, Mesoderm",
author = "Manuela Mura and Francesca Bastaroli and Marzia Corli and Monia Ginevrino and Federica Calabr{\`o} and Marina Boni and Lia Crotti and Valente, {Enza Maria} and Schwartz, {Peter J.} and Massimiliano Gnecchi",
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AU - Mura, Manuela

AU - Bastaroli, Francesca

AU - Corli, Marzia

AU - Ginevrino, Monia

AU - Calabrò, Federica

AU - Boni, Marina

AU - Crotti, Lia

AU - Valente, Enza Maria

AU - Schwartz, Peter J.

AU - Gnecchi, Massimiliano

PY - 2020/1

Y1 - 2020/1

N2 - 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.

AB - 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.

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KW - Mesoderm

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