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Cellosaurus AT31RM (CVCL_XF20)

[Text version]
Cell line name AT31RM
Synonyms Ataxia Telangiectasia 31 RoMa
Accession CVCL_XF20
Resource Identification Initiative To cite this cell line use: AT31RM (RRID:CVCL_XF20)
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=Homozygous (PubMed=9497252).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 38Y
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)

Cross-references
Encyclopedic resources Wikidata; Q93326323
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number9