ID   GM18366
AC   CVCL_6G80
AS   CVCL_ZV76
SY   F02/98; F02-98
DR   CLO; CLO_0031106
DR   BioSample; SAMN00805492
DR   Coriell; GM18366
DR   Wikidata; Q54849515
RX   PubMed=12640452;
RX   PubMed=18077418;
RX   PubMed=19896956;
CC   Population: Pakistani.
CC   Sequence variation: 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).
CC   Omics: Deep quantitative phosphoproteome analysis.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C125488; Seckel syndrome
DI   ORDO; Orphanet_808; Seckel syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_R778 ! DK0064
OI   CVCL_6G81 ! GM18367
SX   Male
AG   6Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; Version: 13
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RX   PubMed=12640452; DOI=10.1038/ng1129;
RA   O'Driscoll M., Ruiz-Perez V.L., Woods C.G., Jeggo P.A., Goodship J.A.;
RT   "A splicing mutation affecting expression of ataxia-telangiectasia and
RT   Rad3-related protein (ATR) results in Seckel syndrome.";
RL   Nat. Genet. 33:497-501(2003).
//
RX   PubMed=18077418; DOI=10.1073/pnas.0707579104;
RA   Stokes M.P., Rush J., MacNeill J., Ren J.M., Sprott K., Nardone J.,
RA   Yang V., Beausoleil S.A., Gygi S.P., Livingstone M., Zhang H.,
RA   Polakiewicz R.D., Comb M.J.;
RT   "Profiling of UV-induced ATM/ATR signaling pathways.";
RL   Proc. Natl. Acad. Sci. U.S.A. 104:19855-19860(2007).
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RX   PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013;
RA   Wilson P.F., Nham P.B., Urbin S.S., Hinz J.M., Jones I.M.,
RA   Thompson L.H.;
RT   "Inter-individual variation in DNA double-strand break repair in human
RT   fibroblasts before and after exposure to low doses of ionizing
RT   radiation.";
RL   Mutat. Res. 683:91-97(2010).
//