Cellosaurus logo
expasy logo

Cellosaurus GM18367 (CVCL_6G81)

[Text][XML][JSON]
Cell line name GM18367
Accession CVCL_6G81
Resource Identification Initiative To cite this cell line use: GM18367 (RRID:CVCL_6G81)
Comments Population: Pakistani.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Caution: Could be identical to DK0064 (Cellosaurus=CVCL_R778).
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 (Coriell=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_R778 ! DK0064
CVCL_6G80 ! GM18366
Sex of cell Male
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM18367 - Discontinued
Cell line databases/resources CLO; CLO_0031109
Encyclopedic resources Wikidata; Q54849516
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number15