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; Cristina Gervasini; Stefania Paganini; Marina Di Segni; Rosaria Santoro; Yvan Torrente; Giulio Pompilio; Aoife Gowran

doi:10.1016/j.scr.2019.101544

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, Cristina Gervasini, Stefania Paganini, Marina Di Segni, Rosaria Santoro, Yvan Torrente, Giulio Pompilio, Aoife Gowran

Research output: Contribution to journal › Article › peer-review

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 language	English
Article number	101544
Journal	Stem Cell Research
Volume	40
DOIs	https://doi.org/10.1016/j.scr.2019.101544
Publication status	Published - Oct 1 2019

ASJC Scopus subject areas

Developmental Biology
Cell Biology

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Rovina, D., Castiglioni, E., Farini, A., Bellichi, M., Gervasini, C., Paganini, S., Di Segni, M., Santoro, R., Torrente, Y., Pompilio, G., & Gowran, A. (2019). 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). Stem Cell Research, 40, [101544]. https://doi.org/10.1016/j.scr.2019.101544

Rovina, D, Castiglioni, E, Farini, A, Bellichi, M, Gervasini, C, Paganini, S, Di Segni, M , Santoro, R , Torrente, Y , Pompilio, G & Gowran, A 2019, '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)', Stem Cell Research, vol. 40, 101544. https://doi.org/10.1016/j.scr.2019.101544

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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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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

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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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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)

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