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Cellosaurus XPV3KO (CVCL_A1ZN)

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Cell line name XPV3KO
Synonyms Xeroderma Pigmentosum Variant KObe 3
Accession CVCL_A1ZN
Resource Identification Initiative To cite this cell line use: XPV3KO (RRID:CVCL_A1ZN)
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.Ala117Pro (c.349G>C); 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 50Y
Category Finite cell line
Publications

PubMed=17344931; DOI=10.1038/sj.jid.5700759
Miki Tanioka, Taro Masaki, Ryusuke Ono, Tohru Nagano, Eriko Otoshi-Honda, Yasuhiro Matsumura, Masahiro Takigawa, Hiroki Inui, Yoshiki Miyachi, Shinichi Moriwaki, Chikako Nishigori;
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type.
J. Invest. Dermatol. 127:1745-1751(2007)

Cross-references
Encyclopedic resources Wikidata; Q105511803
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6