Cellosaurus cell line CS2GO (CVCL

Cellosaurus CS2GO (CVCL_ZT14)

Cross-references
Cell line name	CS2GO
Synonyms	Cockayne Syndrome 2 GOthenburg
Accession	CVCL_ZT14
Resource Identification Initiative	To cite this cell line use: CS2GO (RRID:CVCL_ZT14)
Comments	Population: Caucasian. Caution: CS2GO (Cellosaurus=CVCL_ZT14) and CS3GO (Cellosaurus=CVCL_ZT15) originate from 2 siblings, however their mutation profile is different, different hypothesis are proposed about this issue (DOI=10.21954/ou.ro.0000e27e). 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.Leu45Pro (c.134C>T) (C213T); Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e). Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Trp851Arg (c.2551T>A) (T2630A); ClinVar=VCV000522698; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e). Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg1213Gly (c.3637A>G) (A3716G); ClinVar=VCV000129017; Zygosity=Heterozygous (DOI=10.21954/ou.ro.0000e27e).
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	9Y
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) 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
Encyclopedic resources	Wikidata; Q98125744
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8