Cellosaurus cell line CS1MA (CVCL

Cross-references
Cell line name	CS1MA
Synonyms	Cockayne Syndrome 1 MAnchester
Accession	CVCL_ZN74
Resource Identification Initiative	To cite this cell line use: CS1MA (RRID:CVCL_ZN74)
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.Phe665_Gln723del (c.1993_2169del177); 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	Sex unspecified
Age at sampling	1Y
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=10.21954/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; Q98125730
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7