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Cellosaurus CS10BR (CVCL_ZN67)

[Text version]
Cell line name CS10BR
Synonyms Cockayne Syndrome 10 BRighton
Accession CVCL_ZN67
Resource Identification Initiative To cite this cell line use: CS10BR (RRID:CVCL_ZN67)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Lys1203Argfs*33 (c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA) (3686ins26); ClinVar=VCV000190168; Zygosity=Homozygous (PubMed=9443879).
Disease Cockayne syndrome type B (NCIt: C135726)
Cockayne syndrome (ORDO: Orphanet_191)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Sex unspecified
Age at sampling 5Y
Category Finite cell line
Publications

PubMed=9443879; DOI=10.1086/301686; PMCID=PMC1376810
Mallery D.L., Tanganelli B., Colella S., Steingrimsdottir H., van Gool A.J., Troelstra C., Stefanini M., Lehmann A.R.
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Am. J. Hum. Genet. 62:77-85(1998)

Cross-references
Encyclopedic resources Wikidata; Q98125719
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7