ID   XP4KR
AC   CVCL_ZQ22
DR   JCRB; KURB1032
DR   Wikidata; Q98135873
RX   PubMed=7905727;
RX   PubMed=8105686;
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).
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Heterozygous (PubMed=7905727).
CC   Donor information: Established from monozygotic twin of XP3KR (Cellosaurus=CVCL_L777).
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   8Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 9
//
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=8105686; PMCID=PMC1682297;
RA   Nishigori C., Zghal M., Yagi T., Imamura S., Komoun M.R., Takebe H.;
RT   "High prevalence of the point mutation in exon 6 of the xeroderma
RT   pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum
RT   group A patients in Tunisia.";
RL   Am. J. Hum. Genet. 53:1001-1006(1993).
//