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Cellosaurus GM11258 (CVCL_1L66)

[Text version]
Cell line name GM11258
Accession CVCL_1L66
Resource Identification Initiative To cite this cell line use: GM11258 (RRID:CVCL_1L66)
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; c.5497-2A>C (IVS38-2A>C) (c.5496_5556del61); ClinVar=VCV000449345; Zygosity=Unspecified; Note=Splice acceptor mutation (Coriell=GM11258).
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 21Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM11258
Cell line databases/resources CLO; CLO_0025960
Encyclopedic resources Wikidata; Q54844943
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number15