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Cellosaurus XPH2PV (CVCL_RU61)

[Text version]
Cell line name XPH2PV
Synonyms Xeroderma Pigmentosum Heterozygote 2 PaVia
Accession CVCL_RU61
Resource Identification Initiative To cite this cell line use: XPH2PV (RRID:CVCL_RU61)
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; HGNC:12816; XPC; Simple; p.Arg579Ter (c.1735C>T); ClinVar=VCV000000259; Zygosity=Heterozygous (from familial inference of XP10PV).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 58Y
Category Finite cell line
Cross-references
Cell line databases/resources CLO; CLO_0009683
CLDB; cl4776
Encyclopedic resources Wikidata; Q54995010
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number8