Journal article
Knockout of AMD-associated gene POLDIP2 reduces mitochondrial superoxide in human retinal pigment epithelial cells
T Nguyen, D Urrutia-Cabrera, L Wang, JG Lees, JH Wang, SSC Hung, AW Hewitt, TL Edwards, S McLenachan, FK Chen, SY Lim, CD Luu, R Guymer, RCB Wong
Aging | Published : 2023
Abstract
Genetic and epidemiologic studies have significantly advanced our understanding of the genetic factors contributing to age-related macular degeneration (AMD). In particular, recent expression quantitative trait loci (eQTL) studies have highlighted POLDIP2 as a significant gene that confers risk of developing AMD. However, the role of POLDIP2 in retinal cells such as retinal pigment epithelium (RPE) and how it contributes to AMD pathology are unknown. Here we report the generation of a stable human RPE cell line ARPE-19 with POLDIP2 knockout using CRISPR/Cas, providing an in vitro model to investigate the functions of POLDIP2. We conducted functional studies on the POLDIP2 knockout cell line ..
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Funding Acknowledgements
This work was funded by the University of Melbourne (RCBW) , the Centre for Eye Research Australia (RCBW) , and the Stafford Fox Medical Research Foundation (SYL) . TN and DU are supported by the Melbourne Research Scholarship from the University of Melbourne. RG is supported by the National Health and Medical Research Council Fellowship. The Centre for Eye Research Australia and St Vincent?s Institute of Medical Research receive operational infrastructure support from the Victorian Government.