Cell line name |
CS1ABR |
Synonyms |
Cockayne Syndrome 1 Australia BRisbane |
Accession |
CVCL_ZN68 |
Resource Identification Initiative |
To cite this cell line use: CS1ABR (RRID:CVCL_ZN68) |
Comments |
Population: Caucasian. 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.Lys1203Argfs*33 (c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA) (3686ins26); ClinVar=VCV000190168; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; DOI=10.1086/302394).
- Mutation; HGNC; HGNC:3438; ERCC6; Simple; c.2599-26A>G; ClinVar=VCV000190162; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e; DOI=10.1086/302394).
|
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 |
7Y |
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) DOI=10.1086/302394 Mallery D.L., Tanganelli B., Colella S., Steingrimsdottir H., van Gool A.J., Troelstra C., Stefanini M., Lehmann A.R. Erratum to: Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am. J. Hum. Genet. 64:1491-1491(1999) 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 |
Cross-references |
Encyclopedic resources |
Wikidata; Q98125723
|
Entry history |
Entry creation | 02-Jul-2020 |
Last entry update | 19-Dec-2024 |
Version number | 8 |
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