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 Donna L. Mallery, Bianca Tanganelli, Stefano Colella, Herdis Steingrimsdottir, Alain J. van Gool, Christine Troelstra, Miria Stefanini, Alan R. Lehmann; 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