Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic skin disease caused by mutations in the gene COL7A1. The authors developed a strategy to investigate the impact of each pathogenic mutation on skin integrity using CRISPR-mediated genome editing in mice in order to create a reliable animal model for the study of this devastating disease.
- Satoshi Takaki
- Takashi Shimbo
- Katsuto Tamai