ID   Oex2054SV.4
AC   CVCL_DQ96
DR   Wikidata; Q54931871
RX   PubMed=27346197;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+Documento_Deposito_Lineas_iPS-OEX2054SV.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Instituto de Investigaciones Biomedicas Alberto Sols; Madrid; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:8140; OPA1; Simple; p.Gln621Ter (c.1861C>T); Zygosity=Heterozygous (PubMed=27346197).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C169000; Optic atrophy 1
DI   ORDO; Orphanet_98673; Autosomal dominant optic atrophy, classic form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 10-04-25; Version: 13
//
RX   PubMed=27346197; DOI=10.1016/j.scr.2016.03.011;
RA   Galera-Monge T., Zurita-Diaz F., Moreno-Izquierdo A., Fraga M.F.,
RA   Fernandez A.F., Ayuso C., Garesse R., Gallardo M.E.;
RT   "Generation of a human iPSC line from a patient with an optic atrophy
RT   'plus' phenotype due to a mutation in the OPA1 gene.";
RL   Stem Cell Res. 16:673-676(2016).
//