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Cellosaurus AT16LA (CVCL_1L71)

[Text version]
Cell line name AT16LA
Synonyms Ataxia Telangiectasia 16 Los Angeles; GM13326
Accession CVCL_1L71
Resource Identification Initiative To cite this cell line use: AT16LA (RRID:CVCL_1L71)
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.Trp393_Glu394delinsTer (c.1179_1180delGG) (p.Trp393Terfs); ClinVar=VCV000231937; Zygosity=Heterozygous (PubMed=8808599).
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2547_Ser2549del (c.7638_7646delTAGAATTTC) (7636del9); ClinVar=VCV000003019; Zygosity=Heterozygous (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 Female
Age at sampling 17Y
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)

Cross-references
Cell line collections (Providers) Coriell; GM13326
Cell line databases/resources CLO; CLO_0013248
Biological sample resources BioSample; SAMN00802303
Encyclopedic resources Wikidata; Q54846463
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number17