Cellosaurus logo
expasy logo

Cellosaurus AT7RM (CVCL_XY50)

[Text][XML][JSON]
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; c.5320del3556; Zygosity=Heterozygous (PubMed=8845835).
  • Mutation; HGNC; HGNC:795; ATM; Simple; p.Arg2506Thrfs (c.7517_7520delGAGA) (7517del4); 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
Shlomit Gilad, Rami Khosravi, Dganit Shkedy, Tamar Uziel, Yael Ziv, Kinneret Savitsky, Galit Rotman, Sara Smith, Luciana Chessa, Timothy J. Jorgensen, Reli Harnik ...Show all 23 authors... , Moshe Frydman, Ozden Sanal, Sima Portnoi, Zipora Goldwicz, Nicolaas G.J. Jaspers, Richard A. Gatti, Gilbert Marcel Lenoir, Martin Francis Lavin, Kouichi Tatsumi, Rolf-Dieter Wegner, Yosef Shiloh, Anat Bar-Shira; Show fewer authors
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 update10-Apr-2025
Version number10