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Cellosaurus AT76RM (CVCL_XY17)

[Text version]
Cell line name AT76RM
Synonyms Ataxia Telangiectasia 76 RoMa
Accession CVCL_XY17
Resource Identification Initiative To cite this cell line use: AT76RM (RRID:CVCL_XY17)
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.Arg2506Thrfs (c.7517_7520delGAGA) (7517del4); Zygosity=Homozygous (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
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; Q93326458
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9