ID   XP8TU
AC   CVCL_ZQ33
SY   Xeroderma Pigmentosum 8 TUnisia
DR   Wikidata; Q98136205
RX   PubMed=8105686;
CC   Population: Tunisian.
CC   Sequence variation: Mutation; HGNC; HGNC:12814; XPA; Simple; p.Arg228Ter (c.682C>T); ClinVar=VCV000000995; Zygosity=Homozygous (PubMed=8105686).
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   Sex unspecified
AG   35Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
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).
//