Cellosaurus cell line AT41RM (CVCL

Cross-references
Cell line name	AT41RM
Synonyms	Ataxia Telangiectasia 41 RoMa
Accession	CVCL_WW19
Resource Identification Initiative	To cite this cell line use: AT41RM (RRID:CVCL_WW19)
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.Glu2904Gly (c.8711A>G); ClinVar=VCV000186276; Zygosity=Homozygous (PubMed=8845835; PubMed=9244351).
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., Tsarfaty I., Shiloh Y. Recombinant ATM protein complements the cellular A-T phenotype. Oncogene 15:159-167(1997)
Encyclopedic resources	Wikidata; Q93326336
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	10