CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids

CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids

Mutations in the lebercilin-encoding gene LCA5 cause one of the most severe forms of Leber congenital amaurosis, an early-onset retinal disease that results in severe visual impairment. Here, we report on the generation of a patient-specific cellular model to study LCA5-associated retinal disease. C...

Full description

Bibliographic Details
Main Authors: Tess A.V. Afanasyeva, Dimitra Athanasiou, Pedro R.L. Perdigao, Kae R. Whiting, Lonneke Duijkers, Galuh D.N. Astuti, Jean Bennett, Alejandro Garanto, Jacqueline van der Spuy, Ronald Roepman, Michael E. Cheetham, Rob W.J. Collin
Format: Article
Language:English
Published: Elsevier 2023-06-01
Series:Molecular Therapy: Methods & Clinical Development
Subjects:
retinal organoid
retinal disease
Leber congenital amaurosis
CRISPR-Cas9
isogenic
lebercilin
Online Access:http://www.sciencedirect.com/science/article/pii/S2329050123000748

Internet

http://www.sciencedirect.com/science/article/pii/S2329050123000748

Similar Items