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Cellosaurus AT29RM (CVCL_XY48)

[Text version]
Cell line name AT29RM
Synonyms Ataxia Telangiectasia 29 RoMa
Accession CVCL_XY48
Resource Identification Initiative To cite this cell line use: AT29RM (RRID:CVCL_XY48)
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.Pro1480Tyrfs*5 (c.4611_4611+9del10) (c.4437_4611del175); Zygosity=Homozygous (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)

PubMed=9050866; DOI=10.1073/pnas.94.5.1840; PMCID=PMC20004
Brown K.D., Ziv Y., Sadanandan S.N., Chessa L., Collins F.S., Shiloh Y., Tagle D.A.
The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage.
Proc. Natl. Acad. Sci. U.S.A. 94:1840-1845(1997)

Cross-references
Encyclopedic resources Wikidata; Q93326303
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9