ID   XP2NI
AC   CVCL_ZQ47
DR   Wikidata; Q98135657
RX   PubMed=7905727;
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=Heterozygous; Note=Splice acceptor mutation (PubMed=7905727; PubMed=8596539).
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Glu225Gln (c.673G>C); Zygosity=Heterozygous (PubMed=7905727; PubMed=8596539).
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   12Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
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).
//
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).
//