Mutations in the USH2A gene are responsible for Usher syndrome type 2A, a combined deaf blindness disease. USH2A encodes usherin, a basement membrane protein highly expressed in photoreceptors of the retina and hair cells of the cochlea. On screening in different cell types, the early part of the USH2A transcript was amplified from Huh7 cells, the ARPE-19 cell line and primary human myotubes, but not from healthy or patient fibroblasts. Therefore, mutations in the early and later parts of the USH2A transcripts were analysed in induced myogenic cells from fibroblast and primary fibroblast cultures, respectively. We found that an intronic mutation in intron 46 of USH2A weakened the natural splice donor site and activated a cryptic splice site, resulting in deletion of the last 153 nucleotides of exon 46 from the mature transcript. Using patient fibroblast-derived induced myogenic cells, we also confirmed a previous report that the synonymous mutation, c.949C>A, caused the deletion of the last 93 nucleotides of exon 6. In future studies, patient fibroblasts will be reprogrammed to induced pluripotent stem cells and differentiated into retinal organoids that will be treated with antisense oligonucleotides to induce alternative splicing as a molecular therapy for Usher syndrome type 2A.