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)

建立杜氏肌营养不良症患者来源的携带肌营养不良蛋白基因外显子51-53缺失的诱导性多能干细胞系(CCMi003-A)

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

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.

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