Treatment with cultured epidermal autograft from revertant skin for epidermolytic ichthyosis
We performed clinical trial of treatment with cultured epidermal autograft (CEA) produced from patients' own revertant epidermal keratinocytes as a proof-of-concept study. We successfully produced CEAs from genetically confirmed revertant skin of the three EI patients and genetically confirmed that CEAs mainly consist of revertant wild-type cells by amplicon sequencing and droplet digital PCR analysis. Single-cell RNA sequencing analysis confirmed normal proliferation and safety profiling of CEAs. Overall design: To assess the proliferation/differentiation abilities and safety of cultured epidermal autograft generated from the patients' revertant skin, we performed single-cell RNA sequencing analysis using cells from cultured epidermal autograft and control cultured normal human keratinocytes to see the gene expression profiles.