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 | |
| Publication status | Published - Oct 1 2019 |
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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). / Rovina, Davide; Castiglioni, Elisa; Farini, Andrea; Bellichi, Marzia; Gervasini, Cristina; Paganini, Stefania; Di Segni, Marina; Santoro, Rosaria; Torrente, Yvan; Pompilio, Giulio; Gowran, Aoife.
In: Stem Cell Research, Vol. 40, 101544, 01.10.2019.Research output: Contribution to journal › Article
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TY - JOUR
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.
UR - http://www.scopus.com/inward/record.url?scp=85073641527&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85073641527&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2019.101544
DO - 10.1016/j.scr.2019.101544
M3 - Article
C2 - 31465894
AN - SCOPUS:85073641527
VL - 40
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
M1 - 101544
ER -