180 New induced pluripotent stem cell lines derived from patients with recessive dystrophic epidermolysis bullosa

Acquiring induced pluripotent stem cells (IPSC) lines from probands with rare diseases allows investigating properties of difficult to obtain tissues. We obtained IPSC dermal fibroblasts two patients recessive form dystrophic epidermolysis bullosa (RDEB) using the kit Sendai virus mediated gene transfer. Patients have different mutation types in COL7A1 and RDEB forms. approved IPSCs status expression analysis by both reverse transcription PCR (LIN28, Nanog, Oct4, Sox2, TDGF1, S100A4) immunocytochemistry (Oct4, SSEA4, TRA-1-60, TRA-1-81). The markers was confirmed comparison Kyoto. were transplanted into testes nude mice study tumorigenic obtained. Both iPSCs developed tumors where three embryonic germ layers found immunohistochemistry (Nestin, Desmin, AFP). These findings nature cells. This work expands collection genodermatosis patient derived IPSCs, allowing us further impaired matrix synthesis.