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Cellosaurus GM14087 (CVCL_1M51)

[Text version]
Cell line name GM14087
Synonyms AT409AIV2
Accession CVCL_1M51
Resource Identification Initiative To cite this cell line use: GM14087 (RRID:CVCL_1M51)
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.Lys750Lys (c.2250G>A); ClinVar=VCV000003044; Zygosity=Heterozygous; Note=Causes skipping of exon 14 (p.Ile709_Lys750del, c.2125_2250del) (Coriell=GM14087).
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 14Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14087
Cell line databases/resources CLO; CLO_0034046
Encyclopedic resources Wikidata; Q54847033
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number15