ID   XPV4KO
AC   CVCL_A1ZP
SY   Xeroderma Pigmentosum Variant KObe 4
DR   Wikidata; Q105511806
RX   PubMed=17344931;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Ser242Ter (c.725C>G); ClinVar=VCV000264680; Zygosity=Homozygous (PubMed=17344931).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   55Y
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=17344931; DOI=10.1038/sj.jid.5700759;
RA   Tanioka M., Masaki T., Ono R., Nagano T., Otoshi-Honda E.,
RA   Matsumura Y., Takigawa M., Inui H., Miyachi Y., Moriwaki S.,
RA   Nishigori C.;
RT   "Molecular analysis of DNA polymerase eta gene in Japanese patients
RT   diagnosed as xeroderma pigmentosum variant type.";
RL   J. Invest. Dermatol. 127:1745-1751(2007).
//