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Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).

Stem cell research - 1 Oct 2020

Peron Camille, Mauceri Roberta, Cabassi Tommaso, Segnali Alice, Maresca Alessandra, Iannielli Angelo, Rizzo Ambra, Sciacca Francesca L, Broccoli Vania, Carelli Valerio, Tiranti Valeria

Abstract excerpt

Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited disorder caused by homoplasmic mutations of mitochondrial DNA (mtDNA). LHON is characterized by the selective degeneration of the retinal ganglion cells (RGC). Almost all LHON maternal lineages are homoplasmic mutant (100% mtDNA copies are mutant) for one of three frequent mtDNA mutations now found in over 90% of patients worldwide...

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DNA, Mitochondrial
Induced Pluripotent Stem Cells
Mitochondria
Mutation
NADH Dehydrogenase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Optic Atrophy, Hereditary, Leber

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PMID: 32771908
DOI: 10.1016/j.scr.2020.101939

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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