Cellosaurus cell line AT42RM (CVCL

Cellosaurus AT42RM (CVCL_XF24)

Cross-references
Cell line name	AT42RM
Synonyms	Ataxia Telangiectasia 42 RoMa
Accession	CVCL_XF24
Resource Identification Initiative	To cite this cell line use: AT42RM (RRID:CVCL_XF24)
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.Lys1192Lys (c.3576G>A) (3403del174) (Ex26del); ClinVar=VCV000003035; Zygosity=Heterozygous (PubMed=9497252; PubMed=17124347). Mutation; HGNC; HGNC:795; ATM; Simple; p.Trp1858Ter (c.5574G>A); ClinVar=VCV001380184; Zygosity=Heterozygous (PubMed=9497252; PubMed=17124347).
Disease	Ataxia telangiectasia syndrome (NCIt: C2887) Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	33Y
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=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; Q93326337
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	11