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Cellosaurus GM21849 (CVCL_1M65)

[Text version]
Cell line name GM21849
Accession CVCL_1M65
Resource Identification Initiative To cite this cell line use: GM21849 (RRID:CVCL_1M65)
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.His1082Leufs*14 (c.3245_3247delATCinsTGAT) (c.3245ATC>TGAT) (H1082X); ClinVar=VCV000003033; Zygosity=Heterozygous (Coriell=GM21849).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 15Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM21849
Cell line databases/resources CLO; CLO_0014832
Encyclopedic resources Wikidata; Q54852183
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14