Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50).
Stem Cell Res
; 25: 128-131, 2017 12.
Article
de En
| MEDLINE
| ID: mdl-29127875
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).
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Exons
/
Myopathie de Duchenne
/
Cellules souches pluripotentes induites
Limites:
Adult
/
Humans
/
Male
Langue:
En
Journal:
Stem Cell Res
Année:
2017
Type de document:
Article
Pays d'affiliation:
Italie