Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells

• Main Authors: Benjamin M. Nash (Author), To Ha Loi (Author), Milan Fernando (Author), Amin Sabri (Author), James Robinson (Author), Anson Cheng (Author), Steven S. Eamegdool (Author), Elizabeth Farnsworth (Author), Bruce Bennetts (Author), John R. Grigg (Author), Seo-Kyung Chung (Author), Anai Gonzalez-Cordero (Author), Robyn V. Jamieson (Author)
• Format: Book
• Published: Hindawi Limited, 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Human induced pluripotent stem cells (hiPSCs) generated from patients and the derivative retinal cells enable the investigation of pathological and novel variants in relevant cell populations. Biallelic pathogenic variants in RPE65 cause early-onset severe retinal dystrophy (EOSRD) or Leber congenit...