• Experimental dermatology · Sep 2013

    Letter

    Keratinocyte cell lines derived from severe generalized recessive epidermolysis bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo.

    • Cristina Chamorro, David Almarza, Blanca Duarte, Sara G Llames, Rodolfo Murillas, Marta García, Juan C Cigudosa, Luis Espinosa-Hevia, Maria José Escámez, Angeles Mencía, Alvaro Meana, Ramón García-Escudero, Rosa Moro, Claudio J Conti, Marcela Del Río, and Fernando Larcher.
    • Epithelial Biomedicine Division, Cutaneous Disease Modelling Unit, CIEMAT, Madrid, Spain.
    • Exp. Dermatol. 2013 Sep 1;22(9):601-3.

    AbstractRecessive dystrophic epidermolysis bullosa (RDEB) is caused by deficiency of type VII collagen due to COL7A1 mutations such as c.6527insC, recurrently found in the Spanish RDEB population. Assessment of clonal correction-based therapeutic approaches for RDEB requires large expansions of cells, exceeding the replication capacity of human primary keratinocytes. Thus, immortalized RDEB cells with enhanced proliferative abilities would be valuable. Using either the SV40 large T antigen or papillomavirus HPV16-derived E6-E7 proteins, we immortalized and cloned RDEB keratinocytes carrying the c.6527insC mutation. Clones exhibited high proliferative and colony-forming features. Cytogenetic analysis revealed important differences between T antigen-driven and E6-E7-driven immortalization. Immortalized cells responded to differentiation stimuli and were competent for epidermal regeneration and recapitulation of the blistering RDEB phenotype in vivo. These features make these cell lines useful to test novel therapeutic approaches including those aimed at editing mutant COL7A1.© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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