ID   FINCBi001-A
AC   CVCL_YD66
SY   F56L cl33
DR   hPSCreg; FINCBi001-A
DR   Wikidata; Q93553991
RX   PubMed=32771908;
CC   From: Fondazione IRCCS Istituto Neurologico C. Besta; Milan; Italy.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 7455; MT-ND1; Simple; p.Ala52Thr (m.3460G>A); ClinVar=VCV000009722; Zygosity=Homoplasmic (PubMed=32771908).
CC   Omics: Array-based CGH.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84808; Leber hereditary optic atrophy
DI   ORDO; Orphanet_104; Leber hereditary optic neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=32771908; DOI=10.1016/j.scr.2020.101939;
RA   Peron C., Mauceri R., Cabassi T., Segnali A., Maresca A.,
RA   Iannielli A., Rizzo A., Sciacca F.L., Broccoli V., Carelli V.,
RA   Tiranti V.;
RT   "Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic
RT   m.G3460A mutation in MT-ND1 associated with Leber's hereditary optic
RT   neuropathy (LHON).";
RL   Stem Cell Res. 48:101939-101939(2020).
//