Cellosaurus cell line CS1USAU (CVCL

Cellosaurus CS1USAU (CVCL_ZP65)

Cross-references
Cell line name	CS1USAU
Accession	CVCL_ZP65
Resource Identification Initiative	To cite this cell line use: CS1USAU (RRID:CVCL_ZP65)
Comments	Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Cys236Arg (c.706T>C); ClinVar=VCV000055827; Zygosity=Heterozygous (PubMed=23623389). Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Tyr577Ter (c.1730dupA); ClinVar=VCV000055828; Zygosity=Heterozygous (PubMed=23623389).
Disease	Xeroderma pigmentosum-Cockayne syndrome complex (NCIt: C156031) Xeroderma pigmentosum-Cockayne syndrome complex (ORDO: Orphanet_220295)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	7Y
Category	Finite cell line
Publications	PubMed=23623389; DOI=10.1016/j.ajhg.2013.04.007; PMCID=PMC3644632 Kashiyama K., Nakazawa Y., Pilz D.T., Guo C.-W., Shimada M., Sasaki K., Fawcett H., Wing J.F., Lewin S.O., Carr L., Li T.-S., Yoshiura K.-i., Utani A., Hirano A., Yamashita S., Greenblatt D., Nardo T., Stefanini M., McGibbon D., Sarkany R.P.E., Fassihi H., Takahashi Y., Nagayama Y., Mitsutake N., Lehmann A.R., Ogi T. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. Am. J. Hum. Genet. 92:807-819(2013) PubMed=30165384; DOI=10.1093/nar/gky774; PMCID=PMC6182131 Sabatella M., Theil A.F., Ribeiro-Silva C., Slyskova J., Thijssen K., Voskamp C., Lans H., Vermeulen W. Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features. Nucleic Acids Res. 46:9563-9577(2018)
Encyclopedic resources	Wikidata; Q98125733
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8