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Cellosaurus AT31LA (CVCL_1L69)

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Cell line name AT31LA
Synonyms Ataxia Telangiectasia 31 Los Angeles; GM11265
Accession CVCL_1L69
Resource Identification Initiative To cite this cell line use: AT31LA (RRID:CVCL_1L69)
Comments Population: Caucasian; English.
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.Glu1991Ter (c.5971G>T); ClinVar=VCV000453606; Zygosity=Heterozygous (Coriell=GM11265).
  • 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 6Y
Category Transformed cell line
Publications

PubMed=8808599; PMCID=PMC1914811
Jocyndra Wright, Sharon Teraoka, Suna Onengut, Aslihan Tolun, Richard A. Gatti, Hans Dieter Ochs, Patrick Concannon;
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; GM11265
Cell line databases/resources CLO; CLO_0025970
Encyclopedic resources Wikidata; Q54844947
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number12