Cellosaurus logo
expasy logo

Cellosaurus CS6BR (CVCL_ZN79)

[Text version]
Cell line name CS6BR
Synonyms Cockayne Syndrome 6 BRighton
Accession CVCL_ZN79
Resource Identification Initiative To cite this cell line use: CS6BR (RRID:CVCL_ZN79)
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:3439; ERCC8; Unexplicit; Mutation in splice donor site of intron 9; Zygosity=Homozygous (PubMed=7664335).
Disease Cockayne syndrome type A (NCIt: C135725)
Cockayne syndrome (ORDO: Orphanet_191)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 5Y
Category Finite cell line
Publications

PubMed=7664335; DOI=10.1016/0092-8674(95)90028-4
Henning K.A., Li L., Iyer N., McDaniel L.D., Reagan M.S., Legerski R.J., Schultz R.A., Stefanini M., Lehmann A.R., Mayne L.V., Friedberg E.C.
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.
Cell 82:555-564(1995)

PubMed=7825573; PMCID=PMC1801309
Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W., Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A., Cole J., Arlett C.F., Lehmann A.R.
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
Am. J. Hum. Genet. 56:167-174(1995)

PubMed=8834235; DOI=10.1007/BF02267059
Stefanini M., Fawcett H., Botta E., Nardo T., Lehmann A.R.
Genetic analysis of twenty-two patients with Cockayne syndrome.
Hum. Genet. 97:418-423(1996)

Cross-references
Encyclopedic resources Wikidata; Q98125767
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8