Gene Correction Reverses Ciliopathy and Photoreceptor Loss in iPSC-Derived Retinal Organoids from Retinitis Pigmentosa Patients

• Published in: Stem cell reports Vol. 10; no. 4; pp. 1267 - 1281
• Main Authors: Deng, Wen-Li, Gao, Mei-Ling, Lei, Xin-Lan, Lv, Ji-Neng, Zhao, Huan, He, Kai-Wen, Xia, Xi-Xi, Li, Ling-Yun, Chen, Yu-Chen, Li, Yan-Ping, Pan, Deng, Xue, Tian, Jin, Zi-Bing
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 10.04.2018; Elsevier
• Subjects: Cell Differentiation; Ciliopathies - pathology; Ciliopathies - physiopathology; Ciliopathies - therapy; ciliopathy; cilium; disease modeling; electrophysiology; Eye Proteins - genetics; Genetic Therapy; Humans; Induced Pluripotent Stem Cells - metabolism; Induced Pluripotent Stem Cells - pathology; Mutation - genetics; Organoids - pathology; patient-derived iPSCs; photoreceptor; Photoreceptor Cells - metabolism; Photoreceptor Cells - pathology; Potassium Channels - metabolism; Retina - pathology; retinal organoid; retinitis pigmentosa; Retinitis Pigmentosa - pathology; Retinitis Pigmentosa - physiopathology; Retinitis Pigmentosa - therapy; RPE cells; RPGR; cilium; electrophysiology; patient-derived iPSCs; photoreceptor; retinal organoid; disease modeling; retinitis pigmentosa; RPE cells; RPGR; ciliopathy

Retinitis pigmentosa (RP) is an irreversible, inherited retinopathy in which early-onset nyctalopia is observed. Despite the genetic heterogeneity of RP, RPGR mutations are the most common causes of this disease. Here, we generated induced pluripotent stem cells (iPSCs) from three RP patients with d...