Cellosaurus cell line XPCS1BD (CVCL

Cellosaurus XPCS1BD (CVCL_ZU89)

Cross-references
Cell line name	XPCS1BD
Synonyms	95RD112
Accession	CVCL_ZU89
Resource Identification Initiative	To cite this cell line use: XPCS1BD (RRID:CVCL_ZU89)
Comments	Population: Caucasian; Spanish. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:3437; ERCC5; Simple; c.673-1G>A (G870A); dbSNP=rs1256618339; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=15572672). Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Cys529Ser (c.1586G>C) (G1783C); ClinVar=VCV000129010; Zygosity=Homozygous (PubMed=15572672).
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	28Y
Category	Finite cell line
Publications	PubMed=11841555; DOI=10.1046/j.0022-202x.2001.01673.x Philippe Lalle, Thierry Nouspikel, Angelos Constantinou, Fabrizio Thorel, Stuart Gordon Clarkson; The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. J. Invest. Dermatol. 118:344-351(2002) PubMed=15572672; DOI=10.1128/mcb.24.24.10670-10680.2004; PMCID=PMC533987 Fabrizio Thorel, Angelos Constantinou, Isabelle Dunand-Sauthier, Thierry Nouspikel, Philippe Lalle, Anja Raams, Nicolaas G.J. Jaspers, Wim Vermeulen, Mahmud K.K. Shivji, Richard Dean Wood, Stuart Gordon Clarkson; Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage. Mol. Cell. Biol. 24:10670-10680(2004)
Encyclopedic resources	Wikidata; Q98136279
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8