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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
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)

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