ID   XP12HM
AC   CVCL_ZQ70
SY   Xeroderma Pigmentosum 12 HamaMatsu
DR   Wikidata; Q98135273
RX   PubMed=20574439;
RX   PubMed=27603812;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=20574439; PubMed=27603812).
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   Female
AG   12Y
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).
//
RX   PubMed=27603812; DOI=10.1111/bjd.15051;
RA   Takahashi Y., Endo Y., Kusaka-Kikushima A., Nakamura S., Nakazawa Y.,
RA   Ogi T., Uryu M., Tsuji G., Furue M., Moriwaki S.;
RT   "An XPA gene splicing mutation resulting in trace protein expression
RT   in an elderly patient with xeroderma pigmentosum group A without
RT   neurological abnormalities.";
RL   Br. J. Dermatol. 177:253-257(2017).
//