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Cellosaurus AT21RM (CVCL_XF17)

[Text version]
Cell line name AT21RM
Synonyms Ataxia Telangiectasia 21 RoMa
Accession CVCL_XF17
Resource Identification Initiative To cite this cell line use: AT21RM (RRID:CVCL_XF17)
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; Unexplicit; IVS18+1delG (p.Lys793_Leu822del30, c.2377_2466del90); Zygosity=Homozygous (PubMed=8845835; PubMed=10864201).
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=17124347; DOI=10.1155/2006/740493; PMCID=PMC3862285
Magliozzi M., Piane M., Torrente I., Sinibaldi L., Rizzo G., Savio C., Lulli P., De Luca A., Dallapiccola B., Chessa L.
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Dis. Markers 22:257-264(2006)

PubMed=25942615; DOI=10.1016/j.mrfmmm.2015.04.009
Meschini R., Morucci E., Berni A., Lopez-Martinez W., Palitti F.
Role of chromatin structure modulation by the histone deacetylase inhibitor trichostatin A on the radio-sensitivity of ataxia telangiectasia.
Mutat. Res. 777:52-59(2015)

Cross-references
Encyclopedic resources Wikidata; Q93326284
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number10