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Cellosaurus F239hTert (CVCL_VL08)

[Text version]
Cell line name F239hTert
Accession CVCL_VL08
Resource Identification Initiative To cite this cell line use: F239hTert (RRID:CVCL_VL08)
Comments Transfected with: HGNC; 11730; TERT.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9816; RAD50; Simple; p.Arg1093Ter (c.3277C>T); ClinVar=VCV000005872; Zygosity=Heterozygous (PubMed=19409520).
  • Mutation; HGNC; 9816; RAD50; Simple; p.Ter1313Tyrext*66 (c.3939A>T); ClinVar=VCV000005873; Zygosity=Heterozygous (PubMed=19409520).
Disease Nijmegen breakage syndrome-like disorder (NCIt: C153178)
Nijmegen breakage syndrome-like disorder (ORDO: Orphanet_240760)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 23Y
Category Telomerase immortalized cell line
Publications

PubMed=19409520; DOI=10.1016/j.ajhg.2009.04.010
Waltes R., Kalb R., Gatei M., Kijas A.W., Stumm M., Sobeck A., Wieland B., Varon R., Lerenthal Y., Lavin M.F., Schindler D., Dork T.
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
Am. J. Hum. Genet. 84:605-616(2009)

PubMed=21149446; DOI=10.1074/jbc.M110.204065
Kozlov S.V., Graham M.E., Jakob B., Tobias F., Kijas A.W., Tanuji M., Chen P., Robinson P.J., Taucher-Scholz G., Suzuki K., So S., Chen D., Lavin M.F.
Autophosphorylation and ATM activation: additional sites add to the complexity.
J. Biol. Chem. 286:9107-9119(2011)

Cross-references
Encyclopedic resources Wikidata; Q93548392
Entry history
Entry creation07-Sep-2018
Last entry update29-Jun-2023
Version number9