PRPF8 Mutation-Induced Defects in Human iPSC-Derived RPE Are Rescued by Adenine Base Editing
Summary
PRPF8 mutations in patient-derived iPSC RPE cause functional and ultrastructural defects driven by splicing abnormalities. ABE correction of the PRPF8 mutation in iPSCs can restore PRPF8 expression and alleviate cellular and molecular defects in RPE and highlights the therapeutic potential of precise gene editing correction strategies for RP.
| Authors | Sun X, Liang Y, Liang Y, Li W, Chen H, Ding C, Duan C, Zhou Y, Zhang R, Xu H, Chen J |
|---|---|
| Journal | Investigative ophthalmology & visual science |
| Publication Date | 2026 Jan 5;67(1):21 |
| PubMed | 41533919 |
| PubMed Central | PMC12805961 |
| DOI | 10.1167/iovs.67.1.21 |