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Cellosaurus CS10BR (CVCL_ZN67)

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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
Donna L. Mallery, Bianca Tanganelli, Stefano Colella, Herdis Steingrimsdottir, Alain J. van Gool, Christine Troelstra, Miria Stefanini, Alan Robert Lehmann;
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