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Cellosaurus GM02052A-hTERT (CVCL_VL04)

[Text version]
Cell line name GM02052A-hTERT
Synonyms GM02052A-hTert
Accession CVCL_VL04
Resource Identification Initiative To cite this cell line use: GM02052A-hTERT (RRID:CVCL_VL04)
Comments Population: Jewish; Moroccan.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 795; ATM; Simple; p.Arg35Ter (c.103C>T); ClinVar=VCV000003025; Zygosity=Homozygous (from parent cell line).
Disease Ataxia telangiectasia syndrome (NCIt: C2887)
Ataxia telangiectasia (ORDO: Orphanet_100)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_7350 (GM02052)
Sex of cell Female
Age at sampling 15Y
Category Telomerase immortalized cell line
Publications

PubMed=12446774; DOI=10.1128/mcb.22.24.8552-8561.2002
Heffernan T.P., Simpson D.A., Frank A.R., Heinloth A.N., Paules R.S., Cordeiro-Stone M., Kaufmann W.K.
An ATR- and Chk1-dependent S checkpoint inhibits replicon initiation following UVC-induced DNA damage.
Mol. Cell. Biol. 22:8552-8561(2002)

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; Q93575554
Entry history
Entry creation07-Sep-2018
Last entry update29-Jun-2023
Version number8