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Cellosaurus GM02782 (CVCL_F079)

[Text version]
Cell line name GM02782
Synonyms GM-02782; GM-2782; GM2782; GM02782A; GM02782B
Accession CVCL_F079
Resource Identification Initiative To cite this cell line use: GM02782 (RRID:CVCL_F079)
Comments Population: Iranian.
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; c.2251del19; Zygosity=Heterozygous (PubMed=8808599; PubMed=16166284).
  • Mutation; HGNC; 795; ATM; Simple; c.5675del88; Zygosity=Heterozygous (PubMed=8808599; PubMed=16166284).
  • Mutation; HGNC; 795; ATM; Simple; c.6573del81; Zygosity=Heterozygous (PubMed=8808599; PubMed=16166284).
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_F080 ! GM02531
Sex of cell Male
Age at sampling 5Y
Category Transformed cell line
Publications

PubMed=761484; DOI=10.1159/000131301
Cohen M.M., Sagi M., Ben-Zur Z., Schaap T., Voss R., Kohn G., Ben-Bassat H.
Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines.
Cytogenet. Cell Genet. 23:44-52(1979)

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=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; GM02782
Cell line databases/resources CLO; CLO_0014789
Biological sample resources BioSample; SAMN00808110
Encyclopedic resources Wikidata; Q54837684
Gene expression databases GEO; GSM1116629
GEO; GSM1116630
GEO; GSM1116631
GEO; GSM1116632
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number21