Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51-53 of the dystrophin gene (CCMi003-A)

Research output: Contribution to journalArticle

Abstract

Duchenne's muscular dystrophy (DMD) is a neuromuscular disorder affecting skeletal and cardiac muscle function, caused by mutations in the dystrophin (DMD) gene. Dermal fibroblasts, isolated from a DMD patient with a reported deletion of exons 51 to 53 in the DMD gene, were reprogramed into induced pluripotent stem cells (iPSCs) by electroporation with episomal vectors containing the reprograming factors: OCT4, SOX2, LIN28, KLF4, and L-MYC. The obtained iPSC line showed iPSC morphology, expression of pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal.

Original languageEnglish
Article number101544
JournalStem Cell Research
Volume40
DOIs
Publication statusPublished - Oct 1 2019

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Induced Pluripotent Stem Cells
Dystrophin
Duchenne Muscular Dystrophy
Exons
Cell Line
Genes
Electroporation
Myocardium
Skeletal Muscle
Fibroblasts
Skin
Mutation

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

Cite this

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title = "Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51-53 of the dystrophin gene (CCMi003-A)",
abstract = "Duchenne's muscular dystrophy (DMD) is a neuromuscular disorder affecting skeletal and cardiac muscle function, caused by mutations in the dystrophin (DMD) gene. Dermal fibroblasts, isolated from a DMD patient with a reported deletion of exons 51 to 53 in the DMD gene, were reprogramed into induced pluripotent stem cells (iPSCs) by electroporation with episomal vectors containing the reprograming factors: OCT4, SOX2, LIN28, KLF4, and L-MYC. The obtained iPSC line showed iPSC morphology, expression of pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal.",
author = "Davide Rovina and Elisa Castiglioni and Andrea Farini and Marzia Bellichi and Cristina Gervasini and Stefania Paganini and {Di Segni}, Marina and Rosaria Santoro and Yvan Torrente and Giulio Pompilio and Aoife Gowran",
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month = "10",
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doi = "10.1016/j.scr.2019.101544",
language = "English",
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T1 - Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51-53 of the dystrophin gene (CCMi003-A)

AU - Rovina, Davide

AU - Castiglioni, Elisa

AU - Farini, Andrea

AU - Bellichi, Marzia

AU - Gervasini, Cristina

AU - Paganini, Stefania

AU - Di Segni, Marina

AU - Santoro, Rosaria

AU - Torrente, Yvan

AU - Pompilio, Giulio

AU - Gowran, Aoife

PY - 2019/10/1

Y1 - 2019/10/1

N2 - Duchenne's muscular dystrophy (DMD) is a neuromuscular disorder affecting skeletal and cardiac muscle function, caused by mutations in the dystrophin (DMD) gene. Dermal fibroblasts, isolated from a DMD patient with a reported deletion of exons 51 to 53 in the DMD gene, were reprogramed into induced pluripotent stem cells (iPSCs) by electroporation with episomal vectors containing the reprograming factors: OCT4, SOX2, LIN28, KLF4, and L-MYC. The obtained iPSC line showed iPSC morphology, expression of pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal.

AB - Duchenne's muscular dystrophy (DMD) is a neuromuscular disorder affecting skeletal and cardiac muscle function, caused by mutations in the dystrophin (DMD) gene. Dermal fibroblasts, isolated from a DMD patient with a reported deletion of exons 51 to 53 in the DMD gene, were reprogramed into induced pluripotent stem cells (iPSCs) by electroporation with episomal vectors containing the reprograming factors: OCT4, SOX2, LIN28, KLF4, and L-MYC. The obtained iPSC line showed iPSC morphology, expression of pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal.

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