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Cellosaurus IISHDOi003-A (CVCL_QX87)

[Text version]

Cell line name IISHDOi003-A
Synonyms OAS545-FiPS4F1
Accession CVCL_QX87
Resource Identification Initiative To cite this cell line use: IISHDOi003-A (RRID:CVCL_QX87)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Instituto de Investigacion Sanitaria Hospital 12 de Octubre; Madrid; Spain.
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 8140; OPA1; Simple; p.Ser545Arg (c.1635C>A); ClinVar=VCV000095712; Zygosity=Heterozygous (PubMed=29034899).
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/114/Caracteristicas%20-%20Documento%20Deposito%20Linea%20OAS545-FiPS4F1-v3.pdf
Publications

PubMed=29034899; DOI=10.1016/j.scr.2017.08.017
Zurita-Diaz F., Galera-Monge T., Moreno-Izquierdo A., Corton M., Ayuso C., Garesse R., Gallardo M.E.
Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.
Stem Cell Res. 24:81-84(2017)

Cross-references
Cell line databases/resources hPSCreg; IISHDOi003-A
Encyclopedic resources Wikidata; Q54897447
Entry history
Entry creation15-Nov-2017
Last entry update17-Mar-2022
Version number10