Fig. 5: Correction of exon 1 inversion in patient-specific cells.

a Schematic representation of the generation of patient-specific induced pluripotent stem cells (iPSCs) and treatment with RecF8 mRNA. A magnification of the nucleus is shown with a schematic depiction of the loxF8 locus before and after treatment with RecF8. The two loxF8 target sites are shown in yellow and blue. b PCR-based detection of the loxF8 locus in WT and patient-derived iPSCs with and without RecF8 treatment. Employed primers are depicted in the illustration by arrows in black, blue and orange. c PCR-based detection of inverted loxF8 locus in WT and patient-derived iPSCs with and without RecF8 treatment. Sequencing reads of the PCR products confirming the corrected orientation of the DNA sequence after RecF8 treatment are displayed. The black and gray arrows indicate the sequence orientation between the int1h-1 and int1h-2 repeats of the loxF8 locus. Marker (M) lanes at 1 kb and 3 kb are indicated. WT = iPSCs from a donor that does not carry the exon 1 inversion of the F8 gene. F8 = iPSCs from a hemophilic donor carrying the exon 1 inversion of the F8 gene. Source data are provided as a Source data file.