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)


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 (m.11778G > A/MT-ND4, m.3460G > A/MT-ND1, m.14484 T > C/MT-ND6). Human induced pluripotent stem cells (hiPSCs) were generated from a patient carrying the homoplasmic m.3460G > A/MT-ND1 mutation using the Sendai virus non-integrating virus. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Peron C, Mauceri R, Cabassi T, Segnali A, Maresca A, Iannielli A, Rizzo A, Sciacca FL, Broccoli V, Carelli V, Tiranti V
Journal Stem cell research
Publication Date 2020 Oct;48:101939
PubMed 32771908
DOI 10.1016/j.scr.2020.101939

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