ID   XP28VI
AC   CVCL_ZP98
SY   Xeroderma Pigmentosum 28 VIllejuif
DR   Wikidata; Q98135628
RX   PubMed=11773631;
CC   Population: Tunisian.
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Asn359Valfs*32 (c.1075_1244del170) (Ex10del); Zygosity=Heterozygous (PubMed=11773631).
CC   Sequence variation: Mutation; HGNC; HGNC:9181; POLH; Simple; p.Thr364fs (c.1091dupC) (Fs364); Zygosity=Heterozygous (PubMed=11773631).
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   Sex unspecified
AG   26Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=11773631; DOI=10.1073/pnas.022473899; PMCID=PMC117388;
RA   Broughton B.C., Cordonnier A.M., Kleijer W.J., Jaspers N.G.J.,
RA   Fawcett H., Raams A., Garritsen V.H., Stary A., Avril M.-F.,
RA   Boudsocq F., Masutani C., Hanaoka F., Fuchs R.P.P., Sarasin A.,
RA   Lehmann A.R.;
RT   "Molecular analysis of mutations in DNA polymerase eta in xeroderma
RT   pigmentosum-variant patients.";
RL   Proc. Natl. Acad. Sci. U.S.A. 99:815-820(2002).
//