| Cell line name |
CS1BO |
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| Synonyms |
Cockayne Syndrome 1 BOston |
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| Accession |
CVCL_ZQ19 |
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| Resource Identification Initiative |
To cite this cell line use: CS1BO (RRID:CVCL_ZQ19) |
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| Comments |
Population: African American.
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.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).
|
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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 |
Female |
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| Age at sampling |
1Y |
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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 Robert 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 Robert Lehmann;
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
Colin Francis Arlett, Michael H.L. Green, Paul Bryan Rogers, Alan Robert Lehmann, Piers N. Plowman;
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q98125727
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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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