Cellosaurus cell line CS4PV (CVCL

Cross-references
Cell line name	CS4PV
Synonyms	Cockayne Syndrome 4 PaVia
Accession	CVCL_YQ72
Resource Identification Initiative	To cite this cell line use: CS4PV (RRID:CVCL_YQ72)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Asn75Glnfs*9 (c.223_227del5); ClinVar=VCV001455112; Zygosity=Homozygous (PubMed=29572252).
Disease	Cockayne syndrome type A (NCIt: C135725) Cockayne syndrome (ORDO: Orphanet_191)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3Y
Category	Finite cell line
Publications	PubMed=17297471; DOI=10.1038/sj.onc.1210232 D'Errico M., Parlanti E., Teson M., Degan P., Lemma T., Calcagnile A.S., Iavarone I., Jaruga P., Ropolo M., Pedrini A.M., Orioli D., Frosina G., Zambruno G., Dizdaroglu M., Stefanini M., Dogliotti E. The role of CSA in the response to oxidative DNA damage in human cells. Oncogene 26:4336-4343(2007) PubMed=29572252; DOI=10.1136/jmedgenet-2017-104877 Calmels N., Botta E., Jia N., Fawcett H., Nardo T., Nakazawa Y., Lanzafame M., Moriwaki S., Sugita K., Kubota M., Obringer C., Spitz M.-A., Stefanini M., Laugel V., Orioli D., Ogi T., Lehmann A.R. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. J. Med. Genet. 55:329-343(2018)
Encyclopedic resources	Wikidata; Q93459124
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	8