Abstract
AbstractTo assess the transcriptomic profile of disease‐specific cell populations, fibroblasts from patients with geographic atrophy – the advanced form of age‐related macular degeneration – were reprogrammed into induced pluripotent stem cells (iPSCs) before being differentiated into retinal pigment epithelium (RPE) cells and compared to those from healthy individuals. RPE cells were subjected to single‐cell RNA‐sequencing and to mass spectrometry, to precisely characterize their transcriptomic and proteomic profiles. This approach implicated genes at loci definitively associated with disease, and uncovered new pathogenic pathways, which were subsequently confirmed by functional analysis. This work highlights the power of large‐scale iPSC studies to uncover context‐specific profiles for genetically complex disease such as age‐related macular degeneration.
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