{"title":"Generation of iPSC-Derived RGCs for Modeling Dominant Optic Atrophy","authors":"Marta García-López, M. E. Gallardo","doi":"10.3390/ecb2023-14087","DOIUrl":null,"url":null,"abstract":": Dominant optic atrophy (DOA), mainly caused by pathogenic variants in OPA1 , is one of the most common forms of hereditary optic neuropathy. OPA1 is involved in mitochondrial dynamics and oxidative phosphorylation, among other functions. Hence, mutations in this gene cause the degeneration of retinal ganglion cells (RGCs), leading to reduced visual acuity. In this work, we have used induced pluripotent stem cell (iPSC) technology to generate RGCs, starting from an iPSC line created from fibroblasts from a DOA patient and also its CRISPR isogenic control. The generated RGCs showed expression of BRN3A, SNCG or THY1, and could potentially serve as a platform for DOA modeling.","PeriodicalId":265361,"journal":{"name":"The 2nd International Electronic Conference on Biomedicines","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"The 2nd International Electronic Conference on Biomedicines","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3390/ecb2023-14087","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
: Dominant optic atrophy (DOA), mainly caused by pathogenic variants in OPA1 , is one of the most common forms of hereditary optic neuropathy. OPA1 is involved in mitochondrial dynamics and oxidative phosphorylation, among other functions. Hence, mutations in this gene cause the degeneration of retinal ganglion cells (RGCs), leading to reduced visual acuity. In this work, we have used induced pluripotent stem cell (iPSC) technology to generate RGCs, starting from an iPSC line created from fibroblasts from a DOA patient and also its CRISPR isogenic control. The generated RGCs showed expression of BRN3A, SNCG or THY1, and could potentially serve as a platform for DOA modeling.