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Cellosaurus CS5BR (CVCL_ZN78)

[Text version]
Cell line name CS5BR
Synonyms Cockayne Syndrome 5 BRighton
Accession CVCL_ZN78
Resource Identification Initiative To cite this cell line use: CS5BR (RRID:CVCL_ZN78)
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 Sex unspecified
Age at sampling 12Y
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)

Cross-references
Encyclopedic resources Wikidata; Q98125760
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7