Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy

Patient-derived iPSC-RPE harbouring the R345W (c.1033C>T) heterozygous variant in EFEMP1 underwent a 48 hour transient transfection of ASO1.1, ASO1.2, ASO1.3 and ASO1.4 , no treatment (NT) and control (CTRL) ASO conditions were included as controls. Samples underwent targeted next generation sequencing, using primers that amplified the region in EFEMP1 harbouring the R345W (c.1033C>T) heterozygous variant, allowing for the allelic discrimination of transiently transfected antisense oligonucleotides (ASOs).