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Complete phenotype rescue through the restoration of full-length dystrophin using CRISPR/Cas9 genome editing in Duchenne muscular dystrophy patient-derived iPSCs carrying the deletion of two exons

ABSTRACT: Duchenne (DMD) muscular dystrophy is an X-linked disease affecting skeletal and cardiac muscle due to deficient dystrophin protein expression. Here we describe the full-length dystrophin restoration by CRISPR/Cas9 in an induced pluripotent stem cell (iPSC) line from a patient carrying a deletion of exons 49-50. Using sinle nuclei-RNA seq we compared the transcriptomic profile of engineered heart tissue (EHTs) derived from original Duchenne iPSC cells and edited iPSC. This analyses allowed us to discriminate the effects of dystrophin restoration in specific cell types present in EHTs.

ORGANISM(S): Homo sapiens

PROVIDER: GSE280058 | GEO | 2026/07/17

REPOSITORIES: GEO

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