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Cellosaurus Oex2054SV.4 (CVCL_DQ96)

[Text version]
Cell line name Oex2054SV.4
Accession CVCL_DQ96
Resource Identification Initiative To cite this cell line use: Oex2054SV.4 (RRID:CVCL_DQ96)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Instituto de Investigaciones Biomedicas Alberto Sols; Madrid; Spain.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 8140; OPA1; Simple; p.Gln621Ter (c.1861C>T); Zygosity=Heterozygous (PubMed=27346197).
Disease Optic atrophy 1 (NCIt: C169000)
Autosomal dominant optic atrophy, classic form (ORDO: Orphanet_98673)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/72/Caracteristicas%20-%20Documento_Deposito_Lineas_iPS-OEX2054SV.pdf

PubMed=27346197; DOI=10.1016/j.scr.2016.03.011
Galera-Monge T., Zurita-Diaz F., Moreno-Izquierdo A., Fraga M.F., Fernandez A.F., Ayuso C., Garesse R., Gallardo M.E.
Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.
Stem Cell Res. 16:673-676(2016)

Encyclopedic resources Wikidata; Q54931871
Entry history
Entry creation13-Jul-2016
Last entry update29-Jun-2023
Version number11