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Cellosaurus AT7RM (CVCL_XY50)

[Text version]
Cell line name AT7RM
Synonyms Ataxia Telangiectasia 7 RoMa
Accession CVCL_XY50
Resource Identification Initiative To cite this cell line use: AT7RM (RRID:CVCL_XY50)
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=Heterozygous (PubMed=8845835).
  • Mutation; HGNC; HGNC:795; ATM; Simple; c.5320del3556; Zygosity=Heterozygous (PubMed=8845835).
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=8845835; DOI=10.1093/hmg/5.4.433
Gilad S., Khosravi R., Shkedy D., Uziel T., Ziv Y., Savitsky K., Rotman G., Smith S., Chessa L., Jorgensen T.J., Harnik R., Frydman M., Sanal O., Portnoi S., Goldwicz Z., Jaspers N.G.J., Gatti R.A., Lenoir G.M., Lavin M.F., Tatsumi K., Wegner R.-D., Shiloh Y., Bar-Shira A.
Predominance of null mutations in ataxia-telangiectasia.
Hum. Mol. Genet. 5:433-439(1996)

Cross-references
Encyclopedic resources Wikidata; Q93326479
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9