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Cellosaurus GM08436 (CVCL_F208)

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Cell line name GM08436
Accession CVCL_F208
Resource Identification Initiative To cite this cell line use: GM08436 (RRID:CVCL_F208)
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.Asp1548Thrfs*14 (c.4638_4641GATA[1]) (c.4642_4645delGATA); ClinVar=VCV000232070; Zygosity=Heterozygous (PubMed=8808599).
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Glu1978Ter (c.5932G>T); ClinVar=VCV000127414; Zygosity=Heterozygous (Coriell=GM08436).
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_UT47 ! GM08391
Sex of cell Male
Age at sampling 5Y
Category Transformed cell line
Publications

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)

Cross-references
Cell line collections (Providers) Coriell; GM08436
Cell line databases/resources CLO; CLO_0010557
Biological sample resources BioSample; SAMN00798064
Encyclopedic resources Wikidata; Q54843210
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number19