Gene correction of the CLN3 c.175G>A variant in patient-derived induced pluripotent stem cells prevents pathological changes in retinal organoids
Summary
Our results demonstrate the expression of novel CLN3 transcripts in human retinal tissues. The c.175G>A variant alters splicing of the CLN3 pre-mRNA, leading to features consistent with CLN3 deficiency, which were prevented by gene correction. © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.
| Authors | Zhang X, Zhang D, Thompson JA, Chen SC, Huang Z, Jennings L, McLaren TL, Lamey TM, De Roach JN, Chen FK, McLenachan S |
|---|---|
| Journal | Molecular genetics & genomic medicine |
| Publication Date | 2021 Mar;9(3):e1601 |
| PubMed | 33497524 |
| PubMed Central | PMC8104174 |
| DOI | 10.1002/mgg3.1601 |