Cellosaurus logo
expasy logo

Cellosaurus GM14067 (CVCL_1M47)

[Text version]
Cell line name GM14067
Accession CVCL_1M47
Resource Identification Initiative To cite this cell line use: GM14067 (RRID:CVCL_1M47)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu1267_Val1268insTer (c.3802delG) (p.Val1268Terfs); ClinVar=VCV000127374; Zygosity=Unspecified (Coriell=GM14067).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 17Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14067
Cell line databases/resources CLO; CLO_0033755
Encyclopedic resources Wikidata; Q54847023
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14