Autosomal recessive epidermolysis bullosa (RDEB) is a genetic skin adhesion defect caused by mutations in the type VII collagen gene (COL7A1). Although full-length type-VII collagen can be successfully produced in human keratinocytes following retroviral vector transduction, genetic instability due to the large size (9kb) and highly repetitive nature of the gene sequence remains problematic. The Sleeping Beauty (SB) transposon-based integration system can potentially overcome these issues by taking advantage of the hyperactive SB100X transposase in combination with the pT2 transposon..
Collagen VII gene delivery via Sleeping Beauty transposon in COL7A1-deficient keratinocytes from epidermolysis bullosa patients / Latella, Maria Carmela; Cocchiarella, Fabienne; Turchiano, Giandomenico; Gonçalves, Manuel; Larcher, Fernando; Mavilio, Fulvio; Izsvak, Zsuzsanna; Ivics, Zoltan; Recchia, Alessandra. - ELETTRONICO. - 1:(2013), pp. 1-1. (Intervento presentato al convegno ESGCT annual meeting tenutosi a Madrid nel 25-28 ottobre 2013).