Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy
Véronique Bolduc, Katherine Sizov, Astrid Brull, Eric Esposito, Grace S. Chen, Prech Uapinyoying, Apurva Sarathy, Kory R. Johnson, Carsten G. Bönnemann
This study uses allele-specific CRISPR/Cas9 to inactivate a pathogenic variant in COL6A1, showing improved editing efficiency and collagen VI matrix restoration in patient fibroblasts.
Molecular Therapy — Nucleic Acids · Jul 16, 2024Peer-reviewedMolecular Biology