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Cellosaurus AT53RM (CVCL_XF27)

[Text version]
Cell line name AT53RM
Synonyms Ataxia Telangiectasia 53 RoMa
Accession CVCL_XF27
Resource Identification Initiative To cite this cell line use: AT53RM (RRID:CVCL_XF27)
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.Ala1812_Phe1813delinsVal (c.5435_5437delCTT); ClinVar=VCV001747513; Zygosity=Heterozygous (PubMed=9497252).
  • Mutation; HGNC; HGNC:795; ATM; Simple; c.6573-9G>A (IVS47-9G>A); ClinVar=VCV000642095; Zygosity=Heterozygous; Note=Activates a cryptic splice site (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 12Y
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)

Cross-references
Encyclopedic resources Wikidata; Q93326374
Entry history
Entry creation06-Sep-2019
Last entry update19-Dec-2024
Version number11