ID   XP24KY
AC   CVCL_UH41
SY   Xeroderma Pigmentosum 24 KYoto
DR   JCRB; JCRB3074
DR   JCRB; KURB1089
DR   Wikidata; Q98135578
RX   PubMed=9580660;
RX   PubMed=20221251;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg454Trp (c.1360A>T) (R443W); Zygosity=Heterozygous (PubMed=9580660).
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Asn537Argfs*8 (c.1608_1617del); Zygosity=Heterozygous (PubMed=9580660).
CC   Discontinued: JCRB; KURB1089; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB3074
ST   Amelogenin: X,Y
ST   CSF1PO: 10
ST   D13S317: 8,10
ST   D16S539: 9,12
ST   D5S818: 10,13
ST   D7S820: 10,11
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 18,19
DI   NCIt; C3968; Xeroderma pigmentosum, complementation group F
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   48Y
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 11
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RX   PubMed=9580660; DOI=10.1093/hmg/7.6.969;
RA   Matsumura Y., Nishigori C., Yagi T., Imamura S., Takebe H.;
RT   "Characterization of molecular defects in xeroderma pigmentosum group
RT   F in relation to its clinically mild symptoms.";
RL   Hum. Mol. Genet. 7:969-974(1998).
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RX   PubMed=20221251; DOI=10.1371/journal.pgen.1000871; PMCID=PMC2832669;
RA   Ahmad A., Enzlin J.H., Bhagwat N.R., Wijgers N., Raams A.,
RA   Appledoorn E., Theil A.F., Hoeijmakers J.H.J., Vermeulen W.,
RA   Jaspers N.G.J., Scharer O.D., Niedernhofer L.J.;
RT   "Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA
RT   repair in XP-F patients.";
RL   PLoS Genet. 6:E1000871-E1000871(2010).
//