Cellosaurus cell line AT97RM (CVCL

Cross-references
Cell line name	AT97RM
Synonyms	Ataxia Telangiectasia 97 RoMa
Accession	CVCL_XX48
Resource Identification Initiative	To cite this cell line use: AT97RM (RRID:CVCL_XX48)
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.Phe239Leufs*15 (c.717_720delCCTC); ClinVar=VCV000142709; Zygosity=Homozygous (PubMed=17124347).
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=17124347; DOI=10.1155/2006/740493; PMCID=PMC3862285 Monia Magliozzi, Maria Piane, Isabella Torrente, Lorenzo Sinibaldi, Giovanni Rizzo, Camilla Savio, Patrizia Lulli, Alessandro De Luca, Bruno Dallapiccola, Luciana Chessa; 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 Roberta Meschini, Elisa Morucci, Andrea Berni, Wilner Lopez-Martinez, Fabrizio Palitti; 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)
Encyclopedic resources	Wikidata; Q93326509
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	9