Figure 1.

sgRNA and TALEN screening for targeting STGD1-related ABCA4 mutations

(A) Schematic overview of the ABCA4 gene and diagnosed variants of Fi22/01 and Fi15/32 from both alleles. Scale bar represents 1,000 bp. Scheme was designed using the Exon-Intron Graphic Maker software (www.wormweb.org) based on the UCSC Genome Browser ABCA4 sequence. (B) Cleavage efficiency chart of the different sgRNA and TALEN designs screened in wild-type hiPSCs. Relative cleavage efficiency was calculated relative to parental (not cut) bands. (C) Schematic representation of the locus of pathogenic variants selected for gene editing with sgRNAs and TALEN sequences for patient Fi22/01. The sgRNA targeted sequence used for CRISPR-Cas9 appears color highlighted with the patient’s mutation site in red. The PAM is underlined and exons are marked in a box. (D) As in (C) but for patient Fi15/32.