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Cellosaurus XP26PV (CVCL_ZN53)

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Cell line name XP26PV
Synonyms Xeroderma Pigmentosum 26 PaVia
Accession CVCL_ZN53
Resource Identification Initiative To cite this cell line use: XP26PV (RRID:CVCL_ZN53)
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:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Homozygous (PubMed=10766188).
Disease Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Finite cell line
Publications

PubMed=10766188
Franz Chavanne, Bernard C. Broughton, Daniela Pietra, Tiziana Nardo, Alison Browitt, Alan Robert Lehmann, Miria Stefanini;
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.
Cancer Res. 60:1974-1982(2000)

Cross-references
Encyclopedic resources Wikidata; Q98135604
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8