ID   XP23OS
AC   CVCL_UH39
SY   Xeroderma Pigmentosum 23 OSaka
DR   JCRB; KURB1087
DR   JCRB; KURB1088
DR   Wikidata; Q98135566
RX   PubMed=3834095;
RX   PubMed=4066782;
RX   PubMed=6492896;
RX   PubMed=9580660;
RX   PubMed=20221251;
CC   Population: Japanese.
CC   Senescence: Senesces at 17 PDL (PubMed=6492896).
CC   Sequence variation: Mutation; HGNC; 3436; ERCC4; Simple; p.Glu456Glyfs*8 (c.1364dupA); Zygosity=Homozygous or hemizygous (PubMed=9580660).
CC   Misspelling: XP230S; Note=Occasionally.
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   45Y
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 29-06-23; Version: 10
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RX   PubMed=3834095; DOI=10.1269/jrr.26.443;
RA   Fujiwara Y., Ichihashi M., Uehara Y., Matsumoto A., Yamamoto Y.,
RA   Kano Y., Tanakura Y.;
RT   "Xeroderma pigmentosum groups C and F: additional assignments and a
RT   review of the subjects in Japan.";
RL   J. Radiat. Res. 26:443-449(1985).
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RX   PubMed=4066782; DOI=10.1242/jcs.76.1.115;
RA   Johnson R.T., Squires S., Elliott G.C., Koch G.L.E., Rainbow A.J.;
RT   "Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet
RT   sensitivity associated with normal and diminished DNA repair ability,
RT   respectively.";
RL   J. Cell Sci. 76:115-133(1985).
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RX   PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7;
RA   Cleaver J.E.;
RT   "DNA repair deficiencies and cellular senescence are unrelated in
RT   xeroderma pigmentosum cell lines.";
RL   Mech. Ageing Dev. 27:189-196(1984).
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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;
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).
//