Abstract
RDEB is a severe and life-threatening genetic skin disease responsible for blistering of the skin and mucosa after minor trauma. RDEB is caused by a wide variety of mutations in COL7A1 encoding type VII collagen (C7), the major component of anchoring fibrils (AF) which are critical attachment structures that adhere the epidermis to the dermis. We aimed to achieve highly efficient correction of a null mutation (c.6508C>T, p.Gln2170*) in exon 80 of COL7A1 in a patient’s primary RDEB keratinocytes (KC), fibroblasts (FB) and 3D-skin equivalents (SE) through CRISPR/Cas9-mediated HDR.
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