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Cellosaurus AT4BE LCL (CVCL_7377)

[Text version]
Cell line name AT4BE LCL
Synonyms AT4Be LCL; Ataxia Telangiectasia 4 BEthesda LCL; GM03189; GM-03189; GM 3189; GM3189; GM03189B; GM03189D; GM3189D
Accession CVCL_7377
Resource Identification Initiative To cite this cell line use: AT4BE LCL (RRID:CVCL_7377)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Transcriptome analysis by microarray.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 795; ATM; Simple; p.Ser381Argfs*27 (c.1139_1142dupACAG) (c.1141_1142ins4); ClinVar=VCV000280044; Zygosity=Heterozygous (Coriell=GM03189).
  • Mutation; HGNC; 795; ATM; Simple; p.Lys2756Ter (c.8266A>T); ClinVar=VCV000135780; Zygosity=Heterozygous (Coriell=GM03189).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_F083 ! AT4BE
Sex of cell Male
Age at sampling 7Y
Category Transformed cell line
Publications

PubMed=6173245; DOI=10.1016/0014-4827(82)90040-4
Kohn P.H., Kraemer K.H., Buchanan J.K.
Influence of ataxia telangiectasia gene dosage on bleomycin-induced chromosome breakage and inhibition of replication in human lymphoblastoid cell lines.
Exp. Cell Res. 137:387-395(1982)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=8808599
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)

PubMed=16874298; DOI=10.1038/sj.emboj.7601255
Goodarzi A.A., Yu Y.-P., Riballo E., Douglas P., Walker S.A., Ye R.-Q., Harer C., Marchetti C., Morrice N., Jeggo P.A., Lees-Miller S.P.
DNA-PK autophosphorylation facilitates Artemis endonuclease activity.
EMBO J. 25:3880-3889(2006)

PubMed=23943852; DOI=10.1152/physiolgenomics.00064.2013
Zhang L.-W., Simpson D.A., Innes C.L., Chou J., Bushel P.R., Paules R.S., Kaufmann W.K., Zhou T.
Gene expression signatures but not cell cycle checkpoint functions distinguish AT carriers from normal individuals.
Physiol. Genomics 45:907-916(2013)

Cross-references
Cell line collections (Providers) Coriell; GM03189
Cell line databases/resources CLO; CLO_0013410
Biological sample resources BioSample; SAMN00808282
Encyclopedic resources Wikidata; Q54837925
Gene expression databases GEO; GSM1116569
GEO; GSM1116570
GEO; GSM1116637
GEO; GSM1116638
GEO; GSM1116639
GEO; GSM1116640
Entry history
Entry creation04-Apr-2012
Last entry update30-Jan-2024
Version number25