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Cellosaurus AT13LA (CVCL_1L72)

[Text version]
Cell line name AT13LA
Synonyms Ataxia Telangiectasia 13 Los Angeles; GM13328
Accession CVCL_1L72
Resource Identification Initiative To cite this cell line use: AT13LA (RRID:CVCL_1L72)
Comments Population: Caucasian.
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.Arg1921Ter (IVS40+1126A>G); Zygosity=Heterozygous (PubMed=8808599).
  • Mutation; HGNC; HGNC:795; ATM; Simple; c.7630-2A>C (IVS53-2A>C) (IVS51-2A>C) (L2544del53); ClinVar=VCV000127447; Zygosity=Heterozygous; Note=Causes in-frame skipping of exon 54 (Leu2544del53) (PubMed=8808599).
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 32Y
Category Transformed cell line
Publications

PubMed=8808599; PMCID=PMC1914811
Wright J., Teraoka S., Onengut S., Tolun A., Gatti R.A., Ochs H.D., Concannon P.
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
Am. J. Hum. Genet. 59:839-846(1996)

PubMed=16166284; DOI=10.1158/0008-5472.CAN-04-1198
Araten D.J., Golde D.W., Zhang R.H., Thaler H.T., Gargiulo L., Notaro R., Luzzatto L.
A quantitative measurement of the human somatic mutation rate.
Cancer Res. 65:8111-8117(2005)

Cross-references
Cell line collections (Providers) Coriell; GM13328
Cell line databases/resources CLO; CLO_0013246
Biological sample resources BioSample; SAMN00802307
Encyclopedic resources Wikidata; Q54846465
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number17