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

ESDR180 - New induced pluripotent stem cell lines derived from patients with recessive dystrophic epidermolysis bullosa

50th Annual Meeting of the European Society for Dermatological Research. VIRTUAL MEETING