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Cellosaurus GM14451 (CVCL_1M61)

[Text version]
Cell line name GM14451
Accession CVCL_1M61
Resource Identification Initiative To cite this cell line use: GM14451 (RRID:CVCL_1M61)
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.Asp2569Ter (c.7703_7704GA[1]) (c.7705_7706delGA) (p.Arg2568_Asp2569insTer); ClinVar=VCV000220550; Zygosity=Heterozygous (Coriell=GM14451).
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; GM14451
Cell line databases/resources CLO; CLO_0031262
Encyclopedic resources Wikidata; Q54847217
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number13