ID   DK0064
AC   CVCL_R778
SY   SCKL1
DR   Wikidata; Q54831110
RX   PubMed=15496423;
CC   Part of: ECACC chromosomal abnormality collection.
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 (from autologous cell lines GM18366 and GM18367).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Caution: Could be identical to GM18367 (Cellosaurus=CVCL_6G81).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125488; Seckel syndrome
DI   ORDO; Orphanet_808; Seckel syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_6G80 ! GM18366
OI   CVCL_6G81 ! GM18367
SX   Male
AG   6Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 13
//
RX   PubMed=15496423; DOI=10.1093/hmg/ddh335;
RA   Alderton G.K., Joenje H., Varon R., Borglum A.D., Jeggo P.A.,
RA   O'Driscoll M.;
RT   "Seckel syndrome exhibits cellular features demonstrating defects in
RT   the ATR-signalling pathway.";
RL   Hum. Mol. Genet. 13:3127-3138(2004).
//