Cellosaurus cell line XP25PV (CVCL

Cellosaurus XP25PV (CVCL_ZM13)

Cross-references
Cell line name	XP25PV
Synonyms	Xeroderma Pigmentosum 25 PaVia
Accession	CVCL_ZM13
Resource Identification Initiative	To cite this cell line use: XP25PV (RRID:CVCL_ZM13)
Comments	From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy. 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.Asp307Tyr (c.919G>T); ClinVar=VCV000008790; Zygosity=Homozygous (PubMed=12812979).
Disease	Xeroderma pigmentosum, complementation group E (NCIt: C114771) Xeroderma pigmentosum (NCIt: C3452) Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Finite cell line
Publications	PubMed=9584159; DOI=10.1128/mcb.18.6.3182; PMCID=PMC108900 Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M., Stefanini M., Levine A.S., Wood R.D. Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A. Mol. Cell. Biol. 18:3182-3190(1998) PubMed=12812979; DOI=10.1093/hmg/ddg174 Rapic-Otrin V., Navazza V., Nardo T., Botta E., McLenigan M., Bisi D.C., Levine A.S., Stefanini M. True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product. Hum. Mol. Genet. 12:1507-1522(2003)
Encyclopedic resources	Wikidata; Q98135590
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7