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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: Transcriptomics; Microarray.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Ser381Argfs*27 (c.1139_1142dupACAG) (c.1141_1142ins4); ClinVar=VCV000280044; Zygosity=Heterozygous (Coriell=GM03189).
  • Mutation; HGNC; 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
Peter H. Kohn, Kenneth H. Kraemer, Joseph K. Buchanan;
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
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=8808599; PMCID=PMC1914811
Jocyndra Wright, Sharon Teraoka, Suna Onengut, Aslihan Tolun, Richard A. Gatti, Hans D. Ochs, Patrick Concannon;
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
David J. Araten, David W. Golde, Rong H. Zhang, Howard Tzvi Thaler, Lucia Gargiulo, Rosario Notaro, Lucio Luzzatto;
A quantitative measurement of the human somatic mutation rate.
Cancer Res. 65:8111-8117(2005)

PubMed=16874298; DOI=10.1038/sj.emboj.7601255; PMCID=PMC1553186
Aaron A. Goodarzi, Ya-Ping Yu, Enriqueta Riballo, Pauline Douglas, Sarah A. Walker, Rui-Qiong Ye, Christine Harer, Caterina Marchetti, Nick Morrice, Penelope Ann Jeggo, Susan P. Lees-Miller;
DNA-PK autophosphorylation facilitates Artemis endonuclease activity.
EMBO J. 25:3880-3889(2006)

PubMed=23943852; DOI=10.1152/physiolgenomics.00064.2013; PMCID=PMC3798780
Li-Wen Zhang, Dennis A. Simpson, Cynthia L. Innes, Jeff Chou, Pierre R. Bushel, Richard S. Paules, William K. Kaufmann, Tong Zhou;
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 update10-Apr-2025
Version number27