Related Experiment Video
Updated: Jun 25, 2025
Retinal Pigment Epithelium Transplantation in a Non-human Primate Model for Degenerative Retinal Diseases
Published on: June 14, 2021
Generation of an EYS-associated retinitis pigmentosa patient-derived human pluripotent stem cell line (MUi038-A)
Phitchapa Pongpaksupasin1, Pirut Tong-Ngam2, Natee Jearawiriyapaisarn2
1Research Department, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Abstract:
Mutations in the eyes shut homolog (EYS) gene are one of the common causes of autosomal recessive retinitis pigmentosa (RP). The lack of suitable animal models hampers progress understanding of the disease mechanism and drug development. This study reported the reprogramming of CD34+ hematopoietic stem/progenitor cells from a patient with compound heterozygous EYS mutations (c.6416 G > A and c.7228 + 1 G > A) into the induced pluripotent stem cell line, MUi038-A, using non-integrating vectors. The MUi038-A demonstrates pluripotency, tri-lineage differentiation potential, and a normal karyotype, offering a valuable model for studying the mechanism of EYS-related RP and new therapeutic development.
