ID   XP1MG
AC   CVCL_XE09
DR   JCRB; KURB1001
DR   Wikidata; Q98135459
RX   PubMed=2778352;
RX   PubMed=7905727;
RX   PubMed=9025096;
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=7905727).
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   2Y
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 10
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RX   PubMed=2778352; DOI=10.1111/1523-1747.ep12284060;
RA   Nishigori C., Miyachi Y., Imamura S., Takebe H.;
RT   "Reduced superoxide dismutase activity in xeroderma pigmentosum
RT   fibroblasts.";
RL   J. Invest. Dermatol. 93:506-510(1989).
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RX   PubMed=7905727; DOI=10.1001/archderm.1994.01690020057009;
RA   Nishigori C., Moriwaki S., Takebe H., Tanaka T., Imamura S.;
RT   "Gene alterations and clinical characteristics of xeroderma
RT   pigmentosum group A patients in Japan.";
RL   Arch. Dermatol. 130:191-197(1994).
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RX   PubMed=9025096; DOI=10.1093/mutage/12.1.41;
RA   Yagi T., Wood R.D., Takebe H.;
RT   "A low content of ERCC1 and a 120 kDa protein is a frequent feature of
RT   group F xeroderma pigmentosum fibroblast cells.";
RL   Mutagenesis 12:41-44(1997).
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