Cellosaurus cell line XP3RO (CVCL

Cellosaurus XP3RO (CVCL_ZR58)

Cross-references
Cell line name	XP3RO
Synonyms	Xeroderma Pigmentosum 3 ROtterdam
Accession	CVCL_ZR58
Resource Identification Initiative	To cite this cell line use: XP3RO (RRID:CVCL_ZR58)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2718; DDB2; Simple; p.Arg273His (c.818G>A); ClinVar=VCV000008788; Zygosity=Homozygous (PubMed=8798680; PubMed=10777490).
Disease	Xeroderma pigmentosum, complementation group E (NCIt: C114771) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_F497 ! XP3RO LCL
Sex of cell	Female
Age at sampling	29Y
Category	Finite cell line
Publications	PubMed=4778857; DOI=10.1016/0027-5107(73)90062-6 Wim J. Kleijer, Elizabeth A. de Weerd-Kastelein, Milou L. Sluyter, Wilma Keijzer, Jan de Wit, Dirk Bootsma; UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes. Mutat. Res. 20:417-428(1973) PubMed=4842087; DOI=10.1016/0027-5107(74)90013-x Elizabeth A. de Weerd-Kastelein, Wilma Keijzer, Dirk Bootsma; A third complementation group in xeroderma pigmentosum. Mutat. Res. 22:87-91(1974) PubMed=8798680; DOI=10.1074/jbc.271.40.24317 Anne F. Nichols, Phat Ong, Stuart M. Linn; Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. J. Biol. Chem. 271:24317-24320(1996) PubMed=10777490; DOI=10.1074/jbc.M000960200 Anne F. Nichols, Toshiki Itoh, Jay A. Graham, Wei Liu, Masaru Yamaizumi, Stuart M. Linn; Human damage-specific DNA-binding protein p48. Characterization of XPE mutations and regulation following UV irradiation. J. Biol. Chem. 275:21422-21428(2000)
Encyclopedic resources	Wikidata; Q98135783
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7