Abstract
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.
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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: Boon, C., Wijnholds, J. (eds) Retinal Gene Therapy. Methods in Molecular Biology, vol 1715. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-7522-8_7
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DOI: https://doi.org/10.1007/978-1-4939-7522-8_7
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Publisher Name: Humana Press, New York, NY
Print ISBN: 978-1-4939-7521-1
Online ISBN: 978-1-4939-7522-8
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