Notably, correctly spliced COL7A1 transcripts (ASV2) were detected in one skin tissue sample and in six out of eight primary keratinocyte cultures (Supplementary Figure S1) established from RDEB patients that were either homozygous (three out of eight) or heterozygous (five out of eight) for the c.425A > G variant on the genomic level (henceforth referred to as RDEBc.425A>G; Figure 1A and Table 1). The gene discussed is COL7A1; the disease is recessive dystrophic epidermolysis bullosa.