Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy - Duan, Chunwen; Ding, Chengcheng; Sun, Xihao; Mao, Shengru; Liang, Yuqin; Liu, Xinyu; Ding, Xiaoyan; Chen, Jiansu; Tang, Shibo (Stem cell research & therapy, 2024)
Keywords: Cell Differentiation; Diagnostic reagents industry; Ethylenediaminetetraacetic acid; Eye Proteins - genetics; Eye Proteins - metabolism; Gene augmentation therapy; Gene mutations; Genes; Genetic aspects; Genetic Therapy - methods; Human induced pluripotent stem cells (hiPSCs); Humans; Induced Pluripotent Stem Cells - metabolism; Male; Medical research; Medicine, Experimental; Mutation; Organoids - metabolism; Photoreceptor; Photoreceptor Cells, Vertebrate - metabolism; Photoreceptor Cells, Vertebrate - pathology; Retina - metabolism; Retina - pathology; Retinal organoids (ROs); Retinoschisis - genetics; Retinoschisis - metabolism; Retinoschisis - pathology; Retinoschisis - therapy; Stem cells; Transplantation; X-linked retinoschisis (XLRS); Canada; China; X-linked retinoschisis (XLRS); Human induced pluripotent stem cells (hiPSCs); Gene augmentation therapy; Retinal organoids (ROs); Photoreceptor