ID   XP2YO
AC   CVCL_F598
SY   Xeroderma Pigmentosum 2 YOnago; GM04313; GM04313C; GM04313D
DR   CLO; CLO_0019547
DR   Coriell; GM04313
DR   JCRB; KURB1092
DR   JCRB; KURB1093
DR   Wikidata; Q54994915
RX   CelloPub=CLPUB00447;
RX   PubMed=1702221;
RX   PubMed=1814424;
RX   PubMed=2039995;
RX   PubMed=3834095;
RX   PubMed=8823375;
RX   PubMed=9025096;
RX   PubMed=9579555;
RX   PubMed=9580660;
RX   PubMed=9584159;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 3436; ERCC4; Simple; p.Thr567Ala (c.1699A>G) (T556A); Zygosity=Heterozygous (PubMed=9580660).
CC   Sequence variation: Mutation; HGNC; 3436; ERCC4; Simple; p.Val657Glufs*28 (c.1971delT); Zygosity=Heterozygous (PubMed=9580660).
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   64Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 18
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=1702221; DOI=10.1073/pnas.87.24.9908;
RA   Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S.,
RA   Okada Y.;
RT   "Characterization of a splicing mutation in group A xeroderma
RT   pigmentosum.";
RL   Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990).
//
RX   PubMed=1814424;
RA   Nishigori C., Fujisawa H., Uyeno K., Kawaguchi T., Takebe H.;
RT   "Xeroderma pigmentosum patients belonging to complementation group F
RT   and efficient liquid-holding recovery of ultraviolet damage.";
RL   Photodermatol. Photoimmunol. Photomed. 8:146-150(1991).
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RX   PubMed=2039995;
RA   Yagi T., Tatsumi-Miyajima J., Sato M., Kraemer K.H., Takebe H.;
RT   "Analysis of point mutations in an ultraviolet-irradiated shuttle
RT   vector plasmid propagated in cells from Japanese xeroderma pigmentosum
RT   patients in complementation groups A and F.";
RL   Cancer Res. 51:3177-3182(1991).
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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=8823375; DOI=10.1111/1523-1747.ep12584287;
RA   Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J.,
RA   Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W.,
RA   Broughton B.C., Kraemer K.H.;
RT   "DNA repair and ultraviolet mutagenesis in cells from a new patient
RT   with xeroderma pigmentosum group G and Cockayne syndrome resemble
RT   xeroderma pigmentosum cells.";
RL   J. Invest. Dermatol. 107:647-653(1996).
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RX   PubMed=9025096; DOI=10.1093/mutage/12.1.41;
RA   Yagi T., Wood R.D., Takebe H.;
RT   "A low content of ERCC1 and a 120 kDa protein is a frequent feature of
RT   group F xeroderma pigmentosum fibroblast cells.";
RL   Mutagenesis 12:41-44(1997).
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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).
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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=9584159; DOI=10.1128/mcb.18.6.3182;
RA   Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M.,
RA   Stefanini M., Levine A.S., Wood R.D.;
RT   "Relationship of the xeroderma pigmentosum group E DNA repair defect
RT   to the chromatin and DNA binding proteins UV-DDB and replication
RT   protein A.";
RL   Mol. Cell. Biol. 18:3182-3190(1998).
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