Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosa
Adriana Buskin, Lili Zhu, Valeria Chichagova, Basudha Basu, Sina Mozaffari‐Jovin, David Dolan, Alastair Droop, Joseph Collin, Revital Bronstein, Sudeep Mehrotra, Michael H. Farkas, Gerrit Hilgen, Kathryn White, Dean Hallam, Katarzyna Bialas, , Majlinda Lako
The paper generates patient-specific retinal organoids and RPE from RP type 11 patients to show PRPF31 mutations cause retinal-specific splicing defects and structural/functional impairments, which are corrected by in situ gene editing.
bioRxiv · Dec 11, 2017 · PreprintGenetics