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Cellosaurus GM13683 (CVCL_1L75)

[Text version]
Cell line name GM13683
Synonyms AT400AIV3
Accession CVCL_1L75
Resource Identification Initiative To cite this cell line use: GM13683 (RRID:CVCL_1L75)
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=GM13683).
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 7Y
Category Transformed cell line
Publications

PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198
Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L., Notaro R., Luzzatto L.
A quantitative measurement of the human somatic mutation rate.
Cancer Res. 65:8111-8117(2005)

Cross-references
Cell line collections (Providers) Coriell; GM13683
Cell line databases/resources CLO; CLO_0032756
Biological sample resources BioSample; SAMN00802526
Encyclopedic resources Wikidata; Q54846712
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number16