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Cellosaurus AT43RM (CVCL_XF23)

[Text version]
Cell line name AT43RM
Synonyms Ataxia Telangiectasia 43 RoMa
Accession CVCL_XF23
Resource Identification Initiative To cite this cell line use: AT43RM (RRID:CVCL_XF23)
Comments 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.Arg2506Thrfs (c.7517_7520delGAGA) (7517del4); Zygosity=Homozygous (PubMed=8845835; PubMed=10864201; PubMed=12105990).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Transformed cell line
Publications

PubMed=8845835; DOI=10.1093/hmg/5.4.433
Gilad S., Khosravi R., Shkedy D., Uziel T., Ziv Y., Savitsky K., Rotman G., Smith S., Chessa L., Jorgensen T.J., Harnik R., Frydman M., Sanal O., Portnoi S., Goldwicz Z., Jaspers N.G.J., Gatti R.A., Lenoir G.M., Lavin M.F., Tatsumi K., Wegner R.-D., Shiloh Y., Bar-Shira A.
Predominance of null mutations in ataxia-telangiectasia.
Hum. Mol. Genet. 5:433-439(1996)

PubMed=10864201; DOI=10.1054/bjoc.2000.1168; PMCID=PMC2363260
Delia D., Mizutani S., Panigone S., Tagliabue E., Fontanella E., Asada M., Yamada T., Taya Y., Prudente S., Saviozzi S., Frati L., Pierotti M.A., Chessa L.
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes.
Br. J. Cancer 82:1938-1945(2000)

PubMed=12105990; DOI=10.1667/0033-7587(2002)158[0195:DOAGMI]2.0.CO;2
Tsuchida R., Yamada T., Takagi M., Shimada A., Ishioka C., Katsuki Y., Igarashi T., Chessa L., Delia D., Teraoka H., Mizutani S.
Detection of ATM gene mutation in human glioma cell line M059J by a rapid frameshift/stop codon assay in yeast.
Radiat. Res. 158:195-201(2002)

Cross-references
Encyclopedic resources Wikidata; Q93326338
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number10