Article
NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development
23 Apr 2024
Abstract excerpt
While dysfunction and death of light-detecting photoreceptor cells underlie most inherited retinal dystrophies, knowledge of the species-specific details of human rod and cone photoreceptor cell development remains limited. Here, we generated retinal organoids carrying retinal disease-causing variants in NR2E3, as well as isogenic and unrelated controls. Organoids were sampled using single-cell RNA sequencing...
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