ID   XP115KO
AC   CVCL_ZM55
SY   Xeroderma Pigmentosum 115 KOrea
DR   Wikidata; Q98135224
RX   PubMed=29330851;
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; HGNC:47; ABCB6; Simple; p.Asn467Ser (c.1400A>G); Zygosity=Heterozygous (PubMed=29330851).
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg579Ter (c.1735C>T); ClinVar=VCV000000259; Zygosity=Homozygous (PubMed=29330851).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173131; Dyschromatosis universalis hereditaria
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_241; Dyschromatosis universalis hereditaria
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   11Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=29330851; DOI=10.1111/bjd.16339;
RA   Masaki T., Nakano E., Okamura K., Ono R., Sugasawa K., Lee M.-H.,
RA   Suzuki T., Nishigori C.;
RT   "A case of xeroderma pigmentosum complementation group C with diverse
RT   clinical features.";
RL   Br. J. Dermatol. 178:1451-1452(2018).
//