ID   XP10TA
AC   CVCL_ZP01
SY   Xeroderma Pigmentosum 10 Tel Aviv
DR   Wikidata; Q98135207
RX   PubMed=18368133;
CC   Population: Jewish; Iraqi.
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Trp174Cys (c.522G>T); Zygosity=Homozygous (PubMed=18368133).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   53Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=18368133; DOI=10.1038/jid.2008.48; PMCID=PMC2562952;
RA   Inui H., Oh K.-S., Nadem C., Ueda T., Khan S.G., Metin A., Gozukara E.M.,
RA   Emmert S., Slor H., Busch D.B., Baker C.C., DiGiovanna J.J.,
RA   Tamura D., Seitz C.S., Gratchev A., Wu W.-H., Chung K.Y., Chung H.J.,
RA   Azizi E., Woodgate R., Schneider T.D., Kraemer K.H.;
RT   "Xeroderma pigmentosum-variant patients from America, Europe, and
RT   Asia.";
RL   J. Invest. Dermatol. 128:2055-2068(2008).
//