Cellosaurus cell line CS15PV (CVCL

Cross-references
Cell line name	CS15PV
Synonyms	Cockayne Syndrome 15 PaVia
Accession	CVCL_ZS00
Resource Identification Initiative	To cite this cell line use: CS15PV (RRID:CVCL_ZS00)
Comments	Population: Moroccan. 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.Glu13Ter (c.37G>T); ClinVar=VCV000001716; 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	10Y
Category	Finite cell line
Publications	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; Q98125722
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7