Cellosaurus logo
expasy logo

Cellosaurus DK0064 (CVCL_R778)

[Text][XML][JSON]
Cell line name DK0064
Synonyms SCKL1
Accession CVCL_R778
Resource Identification Initiative To cite this cell line use: DK0064 (RRID:CVCL_R778)
Comments Part of: ECACC chromosomal abnormality collection.
Population: Pakistani.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Caution: Could be identical to GM18367 (Cellosaurus=CVCL_6G81).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 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; GM18367).
Disease Seckel syndrome (NCIt: C125488)
Seckel syndrome (ORDO: Orphanet_808)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_6G80 ! GM18366
CVCL_6G81 ! GM18367
Sex of cell Male
Age at sampling 6Y
Category Transformed cell line
Publications

PubMed=15496423; DOI=10.1093/hmg/ddh335
Gemma K. Alderton, Hans Joenje, Raymonda Varon, Anders D. Borglum, Penelope Ann Jeggo, Mark O'Driscoll;
Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.
Hum. Mol. Genet. 13:3127-3138(2004)

Cross-references
Encyclopedic resources Wikidata; Q54831110
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number15