ID   XP126LO
AC   CVCL_ZP19
SY   Xeroderma Pigmentosum 126 LOndon
DR   Wikidata; Q98135264
RX   PubMed=8797827;
RX   PubMed=9579555;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Thr770Profs*46 (c.2304_2307delTCTC) (2281del4); ClinVar=VCV000016579; Zygosity=Heterozygous (PubMed=8797827).
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg799Trp (c.2395C>T) (R788W); ClinVar=VCV000016580; Zygosity=Heterozygous (PubMed=8797827).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3968; Xeroderma pigmentosum, complementation group F
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   22Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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RX   PubMed=8797827; DOI=10.1016/S0092-8674(00)80155-5;
RA   Sijbers A.M., de Laat W.L., Ariza R.R., Biggerstaff M., Wei Y.-F.,
RA   Moggs J.G., Carter K.C., Shell B.K., Evans E., de Jong M.C.,
RA   Rademakers S., de Rooij J., Jaspers N.G.J., Hoeijmakers J.H.J.,
RA   Wood R.D.;
RT   "Xeroderma pigmentosum group F caused by a defect in a
RT   structure-specific DNA repair endonuclease.";
RL   Cell 86:811-822(1996).
//
RX   PubMed=9579555; DOI=10.1046/j.1523-1747.1998.00171.x;
RA   Sijbers A.M., van Voorst Vader P.C., Snoek J.W., Raams A.,
RA   Jaspers N.G.J., Kleijer W.J.;
RT   "Homozygous R788W point mutation in the XPF gene of a patient with
RT   xeroderma pigmentosum and late-onset neurologic disease.";
RL   J. Invest. Dermatol. 110:832-836(1998).
//