As gene therapy of choroideremia is becoming a clinical reality, there is a need for reliable and sensitive assays to determine the expression of exogenously delivered Rab Escort Protein-1 (REP1), in particular to test new gene therapy vectors and as a quality control screen for clinical vector stocks. Here we describe an in vitro protocol to test transgene expression following AAV2/2-REP1 transduction of a human cell line. Gene augmentation can be confirmed by western blot and quantification of the fold-increase of human REP1 levels over untransduced controls.
CITATION STYLE
Patrício, M. I., & MacLaren, R. E. (2018). Retinal gene therapy for choroideremia: In vitro testing for gene augmentation using an adeno-associated viral (AAV) vector. In Methods in Molecular Biology (Vol. 1715, pp. 89–97). Humana Press Inc. https://doi.org/10.1007/978-1-4939-7522-8_7
Mendeley helps you to discover research relevant for your work.