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Cellosaurus FINCBi001-A (CVCL_YD66)

[Text version]

Cell line name FINCBi001-A
Synonyms F56L cl33
Accession CVCL_YD66
Resource Identification Initiative To cite this cell line use: FINCBi001-A (RRID:CVCL_YD66)
Comments From: Fondazione IRCCS Istituto Neurologico C. Besta; Milan; Italy.
Population: Caucasian; Italian.
Omics: Array-based CGH.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 7455; MT-ND1; Simple; p.Ala52Thr (m.3460G>A); ClinVar=VCV000009722; Zygosity=Homoplasmic (PubMed=32771908).
Disease Leber hereditary optic atrophy (NCIt: C84808)
Leber hereditary optic neuropathy (ORDO: Orphanet_104)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 21Y
Category Induced pluripotent stem cell
Publications

PubMed=32771908; DOI=10.1016/j.scr.2020.101939
Peron C., Mauceri R., Cabassi T., Segnali A., Maresca A., Iannielli A., Rizzo A., Sciacca F.L., Broccoli V., Carelli V., Tiranti V.
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 Res. 48:101939-101939(2020)

Cross-references
Cell line databases/resources hPSCreg; FINCBi001-A
Encyclopedic resources Wikidata; Q93553991
Entry history
Entry creation19-Dec-2019
Last entry update17-Mar-2022
Version number5