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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
Miria Stefanini, Heather Fawcett, Elena Botta, Tiziana Nardo, Alan R. Lehmann;
Genetic analysis of twenty-two patients with Cockayne syndrome.
Hum. Genet. 97:418-423(1996)

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 R. Lehmann;
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
Donna L. Mallery;
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
Stefano Colella, Tiziana Nardo, Elena Botta, Alan R. Lehmann, Miria Stefanini;
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