| Cell line name |
CS2BI |
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| Synonyms |
Cockayne Syndrome 2 BIrmingham |
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| Accession |
CVCL_ZN70 |
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| Resource Identification Initiative |
To cite this cell line use: CS2BI (RRID:CVCL_ZN70) |
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| Comments |
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg670Trp (c.2008C>T) (C2087T); ClinVar=VCV000190158; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; PubMed=9443879).
- Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Pro1042Leu (c.3125C>T) (C3204T); Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; PubMed=9443879).
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| Disease |
Cockayne syndrome type B (NCIt: C135726)
Cockayne syndrome (ORDO: Orphanet_191) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Sex unspecified |
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| Age at sampling |
12Y |
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| Category |
Finite cell line |
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| 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 |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q98125739
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| Entry history |
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| Entry creation | 02-Jul-2020 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 8 |
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