Cellosaurus cell line XPV2KO (CVCL

Cross-references
Cell line name	XPV2KO
Synonyms	Xeroderma Pigmentosum Variant KObe 2
Accession	CVCL_A1ZM
Resource Identification Initiative	To cite this cell line use: XPV2KO (RRID:CVCL_A1ZM)
Comments	Population: Japanese. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9181; POLH; Simple; p.Glu164Ter (c.490G>T); ClinVar=VCV000225444; Zygosity=Homozygous (PubMed=17344931).
Disease	Xeroderma pigmentosum variant type (NCIt: C141367) Xeroderma pigmentosum variant (ORDO: Orphanet_90342)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	69Y
Category	Finite cell line
Publications	PubMed=17344931; DOI=10.1038/sj.jid.5700759 Tanioka M., Masaki T., Ono R., Nagano T., Otoshi-Honda E., Matsumura Y., Takigawa M., Inui H., Miyachi Y., Moriwaki S., Nishigori C. Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. J. Invest. Dermatol. 127:1745-1751(2007)
Encyclopedic resources	Wikidata; Q105511798
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6