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Cellosaurus AT34LA (CVCL_1L70)

[Text version]
Cell line name AT34LA
Synonyms Ataxia Telangiectasia 34 Los Angeles; GM11266
Accession CVCL_1L70
Resource Identification Initiative To cite this cell line use: AT34LA (RRID:CVCL_1L70)
Comments Population: Hispanic.
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; c.8988-1G>C (IVS64-1G>C) (8988del13) (p.Ser2996Ter); ClinVar=VCV000181987; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM11266).
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 17Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM11266
Cell line databases/resources CLO; CLO_0025967
Encyclopedic resources Wikidata; Q54844948
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number12