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Cellosaurus GM11264 (CVCL_1L68)

[Text version]
Cell line name GM11264
Accession CVCL_1L68
Resource Identification Initiative To cite this cell line use: GM11264 (RRID:CVCL_1L68)
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.Gln1839Ter (c.5515C>T); ClinVar=VCV000189177; Zygosity=Heterozygous (Coriell=GM11264).
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser1905Ilefs*26 (c.5712dupA) (5712insA); ClinVar=VCV000141416; Zygosity=Heterozygous (Coriell=GM11264).
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 2Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM11264
Cell line databases/resources CLO; CLO_0025972
Encyclopedic resources Wikidata; Q54844946
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number15