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)

Rovina Davide, Castiglioni Elisa, Farini Andrea, Bellichi Marzia, Cristina Gervasini, Stefania Paganini, Marina Di Segni, Santoro Rosaria, Torrente Yvan, Pompilio Giulio, Gowran Aoife

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 reprogrammed into induced pluripotent stem cells (iPSCs) by electroporation with episomal vectors containing the reprogramming 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

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). / Davide, Rovina; Elisa, Castiglioni; Andrea, Farini; Marzia, Bellichi; Gervasini, Cristina; Paganini, Stefania; Di Segni, Marina; Rosaria, Santoro; Yvan, Torrente; Giulio, Pompilio; Aoife, Gowran.

In: Stem Cell Research, Vol. 40, 101544, 01.10.2019.

Research output: Contribution to journalArticle

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AU - Elisa, Castiglioni

AU - Andrea, Farini

AU - Marzia, Bellichi

AU - Gervasini, Cristina

AU - Paganini, Stefania

AU - Di Segni, Marina

AU - Rosaria, Santoro

AU - Yvan, Torrente

AU - Giulio, Pompilio

AU - Aoife, Gowran

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