Home  |  Contact
Due to scheduled maintenance work, this service will not be available from Tuesday August 23rd 06:00 pm until Wednesday August 24th 08:00 am CEST. Apologies for the inconvenience.

Cellosaurus AT24RM (CVCL_WW18)

[Text version]

Cell line name AT24RM
Synonyms Ataxia Telangiectasia 24 RoMa
Accession CVCL_WW18
Resource Identification Initiative To cite this cell line use: AT24RM (RRID:CVCL_WW18)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 795; ATM; Simple; p.Cys252Terfs (c.756_757delTG); Zygosity=Homozygous (PubMed=8845835).
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=9244351; DOI=10.1038/sj.onc.1201319
Ziv Y., Bar-Shira A., Pecker I., Russell P., Jorgensen T.J., Tsarfati I., Shiloh Y.
Recombinant ATM protein complements the cellular A-T phenotype.
Oncogene 15:159-167(1997)

PubMed=17124347; DOI=10.1155/2006/740493
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)

Cross-references
Encyclopedic resources Wikidata; Q93326289
Entry history
Entry creation06-Sep-2019
Last entry update16-Dec-2021
Version number7