Cellosaurus logo
expasy logo

Cellosaurus XP27PV (CVCL_ZM14)

[Text][XML][JSON]
Cell line name XP27PV
Synonyms Xeroderma Pigmentosum 27 PaVia
Accession CVCL_ZM14
Resource Identification Initiative To cite this cell line use: XP27PV (RRID:CVCL_ZM14)
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.Lys244Terfs (c.901_904delAAAG); 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=12812979; DOI=10.1093/hmg/ddg174
Vesna Rapic-Otrin, Valentina Navazza, Tiziana Nardo, Elena Botta, Mary McLenigan, Dawn C. Bisi, Arthur S. Levine, Miria Stefanini;
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)

Cross-references
Encyclopedic resources Wikidata; Q98135614
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7