Cellosaurus cell line AT45RM (CVCL

Cross-references
Cell line name	AT45RM
Synonyms	Ataxia Telangiectasia 45 RoMa
Accession	CVCL_XY20
Resource Identification Initiative	To cite this cell line use: AT45RM (RRID:CVCL_XY20)
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.Leu2945Valfs*10 (c.8833_8834delCT); ClinVar=VCV000186546; Zygosity=Heterozygous (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 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)
Encyclopedic resources	Wikidata; Q93326341
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	9