ID   XP6EH
AC   CVCL_ZS40
SY   Xeroderma Pigmentosum 6 EHime
DR   JCRB; KURB1016
DR   JCRB; KURB1017
DR   Wikidata; Q98136040
RX   PubMed=2778352;
RX   PubMed=7905727;
RX   PubMed=8101209;
RX   PubMed=8596539;
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: 02-07-20; Last updated: 19-12-24; Version: 8
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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=8101209; DOI=10.1111/1523-1747.ep12360046;
RA   Moriwaki S.-i., Nishigori C., Teramoto T., Tanaka T., Kore-eda S.,
RA   Takebe H., Imamura S.;
RT   "Absence of DNA repair deficiency in the confirmed heterozygotes of
RT   xeroderma pigmentosum group A.";
RL   J. Invest. Dermatol. 101:69-72(1993).
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RX   PubMed=8596539; DOI=10.1016/0921-8777(95)00052-6;
RA   Sato M., Nishigori C., Yagi T., Takebe H.;
RT   "Aberrant splicing and truncated-protein expression due to a newly
RT   identified XPA gene mutation.";
RL   Mutat. Res. 362:199-208(1996).
//