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; HGNC:3436; ERCC4; Simple; p.Thr567Ala (c.1699A>G) (T556A); Zygosity=Heterozygous (PubMed=9580660).
CC   Sequence variation: Mutation; HGNC; 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: 19-12-24; Version: 19
CH   CVCL_3244 ! XP2YO(SV)
//
RX   PubMed=2039995;
RA   Yagi, Takashi
RA   Tatsumi-Miyajima, Junko
RA   Sato, Mayumi
RA   Kraemer, Kenneth H.
RA   Takebe, Hiraku
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).
//
RX   PubMed=9579555; DOI=10.1046/j.1523-1747.1998.00171.x;
RA   Sijbers, Anneke M.
RA   van Voorst Vader, Pieter C.
RA   Snoek, Jos W.
RA   Raams, Anja
RA   Jaspers, Nicolaas G.J.
RA   Kleijer, Wim 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).
//
RX   PubMed=3834095; DOI=10.1269/jrr.26.443;
RA   Fujiwara, Yoshisada
RA   Ichihashi, Masamitsu
RA   Uehara, Yoshihiko
RA   Matsumoto, Akira
RA   Yamamoto, Yoko
RA   Kano, Yoshio
RA   Tanakura, Yoshimasa
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).
//
RX   PubMed=9584159; DOI=10.1128/mcb.18.6.3182; PMCID=PMC108900;
RA   Rapic-Otrin, Vesna
RA   Kuraoka, Isao
RA   Nardo, Tiziana
RA   McLenigan, Mary
RA   Eker, Andre P.M.
RA   Stefanini, Miria
RA   Levine, Arthur S.
RA   Wood, Richard Dean
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).
//
RX   PubMed=8823375; DOI=10.1111/1523-1747.ep12584287;
RA   Moriwaki, Shin-ichi
RA   Stefanini, Miria
RA   Lehmann, Alan Robert
RA   Hoeijmakers, Jan Hendrik Jozef
RA   Robbins, Jay H.
RA   Rapin, Isabelle
RA   Botta, Elena
RA   Tanganelli, Bianca
RA   Vermeulen, Wim
RA   Broughton, Bernard C.
RA   Kraemer, Kenneth 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).
//
RX   PubMed=9025096; DOI=10.1093/mutage/12.1.41;
RA   Yagi, Takashi
RA   Wood, Richard Dean
RA   Takebe, Hiraku
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).
//
RX   PubMed=9580660; DOI=10.1093/hmg/7.6.969;
RA   Matsumura, Yasuhiro
RA   Nishigori, Chikako
RA   Yagi, Takashi
RA   Imamura, Sadao
RA   Takebe, Hiraku
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).
//
RX   PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283;
RA   Satokata, Ichiro
RA   Tanaka, Kiyoji
RA   Miura, Naoyuki
RA   Miyamoto, Iwai
RA   Satoh, Yoshiaki
RA   Kondo, Seiji
RA   Okada, Yoshio
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   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=1814424;
RA   Nishigori, Chikako
RA   Fujisawa, Hiroshi
RA   Uyeno, Kenichi
RA   Kawaguchi, Toshio
RA   Takebe, Hiraku
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).
//