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Cellosaurus XP23PV (CVCL_RU45)

[Text version]
Cell line name XP23PV
Synonyms Xeroderma Pigmentosum 23 PaVia
Accession CVCL_RU45
Resource Identification Initiative To cite this cell line use: XP23PV (RRID:CVCL_RU45)
Comments From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2718; DDB2; Unexplicit; IVS7+1G>T (c.703_1023del321) (p.Leu235_Lys341del); Zygosity=Homozygous; Note=Splice donor mutation (PubMed=12812979).
Disease Xeroderma pigmentosum, complementation group E (NCIt: C114771)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 40Y
Category Finite cell line
Publications

PubMed=9584159; DOI=10.1128/mcb.18.6.3182
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)

Cross-references
Cell line databases/resources CLO; CLO_0009667
CLDB; cl4760
Encyclopedic resources Wikidata; Q54994905
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number9