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Cellosaurus GM14070 (CVCL_1M48)

[Text version]
Cell line name GM14070
Synonyms AT340AIB8
Accession CVCL_1M48
Resource Identification Initiative To cite this cell line use: GM14070 (RRID:CVCL_1M48)
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.Ser1924Ter (c.5771C>A); ClinVar=VCV000429078; Zygosity=Heterozygous (Coriell=GM14070).
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Asp2625_Ala2626delinsGluPro (c.7875_7876delTGinsGC); ClinVar=VCV000003030; Zygosity=Heterozygous (Coriell=GM14070).
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 9Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM14070
Cell line databases/resources CLO; CLO_0033756
Encyclopedic resources Wikidata; Q54847024
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number15