Cellosaurus cell line CS1BR (CVCL

Cross-references
Cell line name	CS1BR
Synonyms	Cockayne Syndrome 1 BRighton
Accession	CVCL_ZN61
Resource Identification Initiative	To cite this cell line use: CS1BR (RRID:CVCL_ZN61)
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.Val161Ile (c.481G>A); ClinVar=VCV000645783; 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	Sex unspecified
Age at sampling	Age unspecified
Category	Finite cell line
Publications	PubMed=18079351; DOI=10.1259/bjr/27072321 Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N. Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts. Br. J. Radiol. 81:51-58(2008) 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; Q98125728
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7