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 Shlomit Gilad, Luciana Chessa, Rami Khosravi, Pamela Russell, Yaron Galanty, Maria Piane, Richard A. Gatti, Timothy J. Jorgensen, Yosef Shiloh, Anat Bar-Shira; 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 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; Q93326337
Entry history
Entry creation	06-Sep-2019
Last entry update	19-Dec-2024
Version number	11