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Cellosaurus CS1TAN (CVCL_ZN59)

[Text version]
Cell line name CS1TAN
Synonyms Cockayne Syndrome 1 Turkey ANkara
Accession CVCL_ZN59
Resource Identification Initiative To cite this cell line use: CS1TAN (RRID:CVCL_ZN59)
Comments Population: Turkish.
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.Arg735Ter (c.2203C>T) (C2282T); ClinVar=VCV000001701; Zygosity=Homozygous (DOI=10.21954/ou.ro.0000e27e; 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 Male
Age at sampling 3Y
Category Finite cell line
STR profile Source(s): PubMed=10767341

Markers:
AmelogeninX,Y
D21S1129,31.2
FGA20,24
TH018,9
vWA17,18

Run an STR similarity search on this 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)

DOI=10.21954/ou.ro.0000e27e
Mallery D.L.
The identification and analysis of mutation in the Cockayne syndrome B gene.
Thesis PhD (1999); The Open University; Milton Keynes; United Kingdom

PubMed=10767341; DOI=10.1093/hmg/9.8.1171
Colella S., Nardo T., Botta E., Lehmann A.R., Stefanini M.
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum.
Hum. Mol. Genet. 9:1171-1175(2000)

Cross-references
Encyclopedic resources Wikidata; Q98125732
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7