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Cellosaurus CS1BO (CVCL_ZQ19)

[Text version]
Cell line name CS1BO
Synonyms Cockayne Syndrome 1 BOston
Accession CVCL_ZQ19
Resource Identification Initiative To cite this cell line use: CS1BO (RRID:CVCL_ZQ19)
Comments Population: African American.
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.Lys506Asnfs*37 (c.1518delG) (1597delG); ClinVar=VCV000190150; Zygosity=Heterozygous (PubMed=9443879).
  • Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Pro1095Arg (c.3284C4G) (G3363C); ClinVar=VCV000001707; Zygosity=Heterozygous (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 Female
Age at sampling 1Y
Category Finite cell line
Publications

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)

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)

PubMed=18079351; DOI=10.1259/bjr/27072321
Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)

Cross-references
Encyclopedic resources Wikidata; Q98125727
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8