Reprogramming of dermal fibroblasts from a Duchenne muscular dystrophy patient carrying a deletion of exons 45-50 into an induced pluripotent stem cell line (CCMi005-A)

将外显子 45-50 缺失的杜氏肌营养不良症患者的真皮成纤维细胞重编程为诱导性多能干细胞系 (CCMi005-A)

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作者:Davide Rovina, Elisa Castiglioni, Sara Mallia, Martina Rabino, Andrea Farini, Marzia Belicchi, Giusy Di Giuseppe, Cristina Gervasini, Yvan Torrente, Giulio Pompilio, Aoife Gowran

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked syndrome that affects skeletal and cardiac muscle and is caused by mutation of the dystrophin gene. Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts by electroporation with episomal vectors containing the reprogramming factors (OCT4, SOX2, LIN28, KLF4, and l-MYC). The donor carried an out-of-frame deletion of exons 45-50 of the dystrophin gene. The established iPSC line exhibited normal morphology, expressed pluripotency markers, had normal karyotype and possessed trilineage differentiation potential.

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