Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆ 49, ∆ 50)

Gabriella Spaltro, Vera Vigorelli, Federica Casalnuovo, Pietro Spinelli, Elisa Castiglioni, Davide Rovina, Stefania Paganini, Marina Di Segni, Patrizia Nigro, Cristina Gervasini, Giulio Pompilio, Aoife Gowran

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts by electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant DMD iPSC line (CCMi001DMD-A-3) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal. MLPA analyses performed on DNA extracted from CCMi001DMD-A-3 showed a deletion of exons 49 and 50 (CCMi001DMD-A-3, ∆ 49, ∆ 50).

Original languageEnglish
Pages (from-to)128-131
Number of pages4
JournalStem Cell Research
Volume25
DOIs
Publication statusPublished - Dec 1 2017

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Induced Pluripotent Stem Cells
Duchenne Muscular Dystrophy
Exons
Cell Line
Dystrophin
Electroporation
Cardiomyopathies
Fibroblasts
Muscles
Skin
DNA
Genes

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology

Cite this

Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆ 49, ∆ 50). / Spaltro, Gabriella; Vigorelli, Vera; Casalnuovo, Federica; Spinelli, Pietro; Castiglioni, Elisa; Rovina, Davide; Paganini, Stefania; Di Segni, Marina; Nigro, Patrizia; Gervasini, Cristina; Pompilio, Giulio; Gowran, Aoife.

In: Stem Cell Research, Vol. 25, 01.12.2017, p. 128-131.

Research output: Contribution to journalArticle

Spaltro, Gabriella ; Vigorelli, Vera ; Casalnuovo, Federica ; Spinelli, Pietro ; Castiglioni, Elisa ; Rovina, Davide ; Paganini, Stefania ; Di Segni, Marina ; Nigro, Patrizia ; Gervasini, Cristina ; Pompilio, Giulio ; Gowran, Aoife. / Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆ 49, ∆ 50). In: Stem Cell Research. 2017 ; Vol. 25. pp. 128-131.
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AU - Vigorelli, Vera

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AU - Spinelli, Pietro

AU - Castiglioni, Elisa

AU - Rovina, Davide

AU - Paganini, Stefania

AU - Di Segni, Marina

AU - Nigro, Patrizia

AU - Gervasini, Cristina

AU - Pompilio, Giulio

AU - Gowran, Aoife

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