Cellosaurus cell line XP01RJ (CVCL

Cross-references
Cell line name	XP01RJ
Synonyms	Xeroderma Pigmentosum 01 Rio de Janeiro
Accession	CVCL_ZP84
Resource Identification Initiative	To cite this cell line use: XP01RJ (RRID:CVCL_ZP84)
Comments	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; p.Ala28Asp (c.83C>A); ClinVar=VCV000041495; Zygosity=Heterozygous (PubMed=23255472). Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Trp968Cys (c.2904G>C); ClinVar=VCV000041496; Zygosity=Heterozygous (PubMed=23255472).
Disease	Xeroderma pigmentosum, complementation group G (NCIt: C3969) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	22Y
Category	Finite cell line
Publications	PubMed=23255472; DOI=10.1002/humu.22259 Soltys D.T., Rocha C.R.R., Lerner L.K., de Souza T.A., Munford V., Cabral F., Nardo T., Stefanini M., Sarasin A., Cabral-Neto J.B., Menck C.F.M. Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. Hum. Mutat. 34:481-489(2013)
Encyclopedic resources	Wikidata; Q98135145
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	8