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Cellosaurus AT73RM (CVCL_XX51)

[Text version]
Cell line name AT73RM
Synonyms Ataxia Telangiectasia 73 RoMa
Accession CVCL_XX51
Resource Identification Initiative To cite this cell line use: AT73RM (RRID:CVCL_XX51)
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.Lys750Lys (c.2250G>A); ClinVar=VCV000003044; Zygosity=Heterozygous; Note=Causes skipping of exon 14 (p.Ile709_Lys750del, c.2125_2250del) (PubMed=17124347).
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg805Ter (c.2413C>T); ClinVar=VCV000216021; 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)

Cross-references
Encyclopedic resources Wikidata; Q93326449
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number10