Cellosaurus cell line FINCBi001-A (CVCL

Cross-references
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 site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; FINCBi001-A
Encyclopedic resources	Wikidata; Q93553991
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	8