Cellosaurus cell line AT9RM (CVCL

Cellosaurus AT9RM (CVCL_W150)

Cross-references
Cell line name	AT9RM
Synonyms	Ataxia Telangiectasia 9 RoMa; GM15785
Accession	CVCL_W150
Secondary accession	CVCL_XF34
Resource Identification Initiative	To cite this cell line use: AT9RM (RRID:CVCL_W150)
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.Arg3047Ter (c.9139C>T); ClinVar=VCV000003029; Zygosity=Homozygous (PubMed=9497252; PubMed=10864201).
Disease	Ataxia telangiectasia syndrome (NCIt: C2887) Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	8Y
Category	Transformed cell line
Publications	PubMed=9497252; DOI=10.1086/301755; PMCID=PMC1376949 Gilad S., Chessa L., Khosravi R., Russell P., Galanty Y., Piane M., Gatti R.A., Jorgensen T.J., Shiloh Y., Bar-Shira A. Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am. J. Hum. Genet. 62:551-561(1998) 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)
Cell line collections (Providers)	Coriell; GM15785
Cell line databases/resources	CLO; CLO_0027731
Encyclopedic resources	Wikidata; Q54848198
Entry history
Entry creation	16-Apr-2014
Last entry update	19-Dec-2024
Version number	16