Use of induced pluripotent stem cell models to probe the pathogenesis of Choroideremia and to develop a potential treatment

Abstract excerpt

Choroideremia (CHM) is a rare monogenic, X-linked recessive inherited retinal degeneration resulting from mutations in the Rab Escort Protein-1 (REP1) encoding CHM gene. The primary retinal cell type leading to CHM is unknown. In this study, we explored the utility of induced pluripotent stem cell-derived models of retinal pigmented epithelium (iPSC-RPE) to study disease pathogenesis and a potential gene-based...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to CRISPR and Genetic Engineering
• Share to Retinal Development and Disorders
• Share to Retinal Diseases and Treatments