Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene

Manuela Mura, Yee-Ki Lee, Monia Ginevrino, Rita Zappatore, Federica Pisano, Marina Boni, Federica Dagradi, Lia Crotti, Enza Maria Valente, Peter J Schwartz, Hung-Fat Tse, Massimiliano Gnecchi

Research output: Contribution to journalArticle

Abstract

We report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS). To obtain hiPSCs, we used the classical approach of the four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC. The obtained hiPSC clones display pluripotent stem cell characteristics, and differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs).

Original languageEnglish
Pages (from-to)157-161
Number of pages5
JournalStem Cell Research
Volume29
DOIs
Publication statusPublished - May 2018

Fingerprint

Jervell-Lange Nielsen Syndrome
Induced Pluripotent Stem Cells
Cell Line
Mutation
Genes
Alleles
Pluripotent Stem Cells
Retroviridae
Cardiac Myocytes
Clone Cells
Fibroblasts
Mothers
Skin

Keywords

  • Amino Acid Substitution
  • Cell Line
  • Child
  • Female
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells/metabolism
  • Jervell-Lange Nielsen Syndrome/genetics
  • KCNQ1 Potassium Channel/genetics
  • Mutation, Missense

Cite this

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title = "Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene",
abstract = "We report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS). To obtain hiPSCs, we used the classical approach of the four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC. The obtained hiPSC clones display pluripotent stem cell characteristics, and differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs).",
keywords = "Amino Acid Substitution, Cell Line, Child, Female, Heterozygote, Humans, Induced Pluripotent Stem Cells/metabolism, Jervell-Lange Nielsen Syndrome/genetics, KCNQ1 Potassium Channel/genetics, Mutation, Missense",
author = "Manuela Mura and Yee-Ki Lee and Monia Ginevrino and Rita Zappatore and Federica Pisano and Marina Boni and Federica Dagradi and Lia Crotti and Valente, {Enza Maria} and Schwartz, {Peter J} and Hung-Fat Tse and Massimiliano Gnecchi",
note = "Copyright {\circledC} 2018 The Authors. Published by Elsevier B.V. All rights reserved.",
year = "2018",
month = "5",
doi = "10.1016/j.scr.2018.04.002",
language = "English",
volume = "29",
pages = "157--161",
journal = "Stem Cell Research",
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TY - JOUR

T1 - Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene

AU - Mura, Manuela

AU - Lee, Yee-Ki

AU - Ginevrino, Monia

AU - Zappatore, Rita

AU - Pisano, Federica

AU - Boni, Marina

AU - Dagradi, Federica

AU - Crotti, Lia

AU - Valente, Enza Maria

AU - Schwartz, Peter J

AU - Tse, Hung-Fat

AU - Gnecchi, Massimiliano

N1 - Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

PY - 2018/5

Y1 - 2018/5

N2 - We report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS). To obtain hiPSCs, we used the classical approach of the four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC. The obtained hiPSC clones display pluripotent stem cell characteristics, and differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs).

AB - We report the generation of human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a female patient carrier of the two compound heterozygous mutations c.568 C>T p.R190W (maternal allele), and c.1781 G>A p.R594Q (paternal allele) on the KCNQ1 gene, causing Jervell and Lange-Nielsen Syndrome (JLNS). To obtain hiPSCs, we used the classical approach of the four retroviruses each encoding for a reprogramming factor OCT4, SOX2, KLF4, cMYC. The obtained hiPSC clones display pluripotent stem cell characteristics, and differentiate into spontaneously beating cardiomyocytes (hiPSC-CMs).

KW - Amino Acid Substitution

KW - Cell Line

KW - Child

KW - Female

KW - Heterozygote

KW - Humans

KW - Induced Pluripotent Stem Cells/metabolism

KW - Jervell-Lange Nielsen Syndrome/genetics

KW - KCNQ1 Potassium Channel/genetics

KW - Mutation, Missense

U2 - 10.1016/j.scr.2018.04.002

DO - 10.1016/j.scr.2018.04.002

M3 - Article

C2 - 29677589

VL - 29

SP - 157

EP - 161

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

ER -