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 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)
Encyclopedic resources	Wikidata; Q93326341
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	9