Cellosaurus cell line F239hTert (CVCL

Cellosaurus F239hTert (CVCL_VL08)

Cross-references
Cell line name	F239hTert
Accession	CVCL_VL08
Resource Identification Initiative	To cite this cell line use: F239hTert (RRID:CVCL_VL08)
Comments	Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT. Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR). Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9816; RAD50; Simple; p.Arg1093Ter (c.3277C>T); ClinVar=VCV000005872; Zygosity=Heterozygous (PubMed=19409520). Mutation; HGNC; 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; PMCID=PMC2681000 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; PMCID=PMC3059052 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)
Encyclopedic resources	Wikidata; Q93548392
Entry history
Entry creation	07-Sep-2018
Last entry update	19-Dec-2024
Version number	11