Generation of the induced pluripotent stem cell line (ZSPHARi001-A) from a patient with recessive dystrophic epidermolysis bullosa carrying compound heterozygous mutation in the COL7A1 gene

Abstract

The COL7A1 gene mutation causes type VII collagen dysfunction, which subsequently leads to recessive dystrophic epidermolysis bullosa (RDEB). Patients who suffer from RDEB experience severe blisters and chronic trauma, which can eventually result in serious infection and the development of fatal squamous cell carcinoma. In our study, peripheral blood mononuclear cells (PBMCs) from an RDEB patient with the COL7A1 compound heterozygous mutation were collected and then reprogrammed into induced pluripotent stem cells (iPSC). The RDEB iPSC line can provide a cellular resource for the study of pathogenesis and drug screening.