Cellosaurus cell line AT54RM (CVCL

Cellosaurus AT54RM (CVCL_XF28)

Cross-references
Cell line name	AT54RM
Synonyms	Ataxia Telangiectasia 54 RoMa
Accession	CVCL_XF28
Resource Identification Initiative	To cite this cell line use: AT54RM (RRID:CVCL_XF28)
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.Arg2598Ter (c.7792C>T); ClinVar=VCV000265383; Zygosity=Heterozygous (PubMed=10864201; PubMed=12105990). Mutation; HGNC; HGNC:795; ATM; Simple; p.Gln2762Alafs*6 (c.8283_8284delTC); ClinVar=VCV000482713; Zygosity=Heterozygous (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=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)
Encyclopedic resources	Wikidata; Q93326376
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	10