ID   XP43HM
AC   CVCL_ZQ69
SY   Xeroderma Pigmentosum 43 HamaMatsu
DR   Wikidata; Q98135821
RX   PubMed=20574439;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=20574439).
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Thr260Ilefs*8 (c.779delCinsTTCTT) (779insTT) (780insTT); Zygosity=Heterozygous (PubMed=20574439).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   45Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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RX   PubMed=20574439; DOI=10.1038/jid.2010.137;
RA   Takahashi Y., Endo Y., Sugiyama Y., Inoue S., Iijima M., Tomita Y.,
RA   Kuru S., Takigawa M., Moriwaki S.;
RT   "XPA gene mutations resulting in subtle truncation of protein in
RT   xeroderma pigmentosum group A patients with mild skin symptoms.";
RL   J. Invest. Dermatol. 130:2481-2488(2010).
//