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

Abstract

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).