Cellosaurus cell line CS7TAN (CVCL

Cross-references
Cell line name	CS7TAN
Synonyms	Cockayne Syndrome 7 Turkey ANkara
Accession	CVCL_ZN72
Resource Identification Initiative	To cite this cell line use: CS7TAN (RRID:CVCL_ZN72)
Comments	Population: Turkish. 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.Arg1213Gly (c.3637A>G) (A3716G); ClinVar=VCV000129017; Zygosity=Homozygous (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	18Y
Category	Finite cell line
Publications	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)
Encyclopedic resources	Wikidata; Q98125772
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7