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Article

Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.

International journal of molecular sciences - 30 Jun 2024

García-López Marta, Jiménez-Vicente Lydia, González-Jabardo Raquel, Dorado Helena, Gómez-Manjón Irene, Martín Miguel Ángel, Ayuso Carmen, Arenas Joaquín, Gallardo María Esther

Abstract excerpt

Autosomal dominant optic atrophy (ADOA) is a rare progressive disease mainly caused by mutations in OPA1, a nuclear gene encoding for a mitochondrial protein that plays an essential role in mitochondrial dynamics, cell survival, oxidative phosphorylation, and mtDNA maintenance. ADOA is characterized by the degeneration of retinal ganglion cells (RGCs). This causes visual loss, which can lead to legal blindness in...

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PMID: 39000346
DOI: 10.3390/ijms25137240
PMCID: PMC11242102

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Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.PMID 39000346Read ↗

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Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.Semantic proximity Read ↗

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