Home  |  Contact

Cellosaurus XPH12PV (CVCL_RU51)

Cell line name XPH12PV
Synonyms Xeroderma Pigmentosum Heterozygote 12 PaVia
Accession CVCL_RU51
Resource Identification Initiative To cite this cell line use: XPH12PV (RRID:CVCL_RU51)
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; 3434; ERCC2; Simple; p.Arg683Gln (c.2048G>A); ClinVar=VCV000264679; Zygosity=Heterozygous (from familial inference of XP17PV).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 62Y
Category Finite cell line
Cross-references
Cell line databases/resources CLO; CLO_0009673
CLDB; cl4766
Encyclopedic resources Wikidata; Q54994988
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number7