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Cellosaurus GM18366 (CVCL_6G80)

[Text version]
Cell line name GM18366
Synonyms F02/98; F02-98
Accession CVCL_6G80
Secondary accession CVCL_ZV76
Resource Identification Initiative To cite this cell line use: GM18366 (RRID:CVCL_6G80)
Comments Population: Pakistani.
Omics: Deep quantitative phosphoproteome analysis.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 882; ATR; Simple; p.Gly674Gly (c.2022A>G) (2101A>G); ClinVar=VCV000008307; Zygosity=Homozygous; Note=Silent mutation that causes increased levels of skipping exon 9 and activation of two cryptic splicing events from sites in exon 9 leading to termination in exon 10 (PubMed=12640452).
Disease Seckel syndrome (NCIt: C125488)
Seckel syndrome (ORDO: Orphanet_808)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_ZV77 (F02/98 hTERT)
Originate from same individual CVCL_R778 ! DK0064
CVCL_6G81 ! GM18367
Sex of cell Male
Age at sampling 6Y
Category Finite cell line

PubMed=12640452; DOI=10.1038/ng1129
O'Driscoll M., Ruiz-Perez V.L., Woods C.G., Jeggo P.A., Goodship J.A.
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.
Nat. Genet. 33:497-501(2003)

PubMed=18077418; DOI=10.1073/pnas.0707579104
Stokes M.P., Rush J., MacNeill J., Ren J.M., Sprott K., Nardone J., Yang V., Beausoleil S.A., Gygi S.P., Livingstone M., Zhang H., Polakiewicz R.D., Comb M.J.
Profiling of UV-induced ATM/ATR signaling pathways.
Proc. Natl. Acad. Sci. U.S.A. 104:19855-19860(2007)

PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013
Wilson P.F., Nham P.B., Urbin S.S., Hinz J.M., Jones I.M., Thompson L.H.
Inter-individual variation in DNA double-strand break repair in human fibroblasts before and after exposure to low doses of ionizing radiation.
Mutat. Res. 683:91-97(2010)

Cell line collections (Providers) Coriell; GM18366
Cell line databases/resources CLO; CLO_0031106
Biological sample resources BioSample; SAMN00805492
Encyclopedic resources Wikidata; Q54849515
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number13