ID   XP3YO
AC   CVCL_M284
SY   Xeroderma Pigmentosum 3 YOnago; GM03542; GM3542; GM03542C
DR   CLO; CLO_0017310
DR   BioSample; SAMN00808443
DR   Coriell; GM03542
DR   JCRB; JCRB3039
DR   JCRB; KURB1100
DR   JCRB; KURB1101
DR   Wikidata; Q54838121
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00447;
RX   PubMed=1814424;
RX   PubMed=3010096;
RX   PubMed=3834095;
RX   PubMed=3922833;
RX   PubMed=4031543;
RX   PubMed=9025096;
RX   PubMed=9580660;
RX   PubMed=26184184;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 3436; ERCC4; Simple; p.Arg490Gln (c.1469G>A) (R479Q); ClinVar=VCV001723249; Zygosity=Heterozygous (PubMed=9580660).
CC   Sequence variation: Mutation; HGNC; 3436; ERCC4; Simple; p.Leu608Pro (c.1823T>C) (L599P); Zygosity=Heterozygous (PubMed=9580660).
CC   Discontinued: JCRB; KURB1101; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB
ST   Amelogenin: X,Y
ST   CSF1PO: 12,13
ST   D13S317: 8,11
ST   D16S539: 10,11
ST   D5S818: 10
ST   D7S820: 8,11
ST   TH01: 6,8
ST   TPOX: 8,11
ST   vWA: 17,18
DI   NCIt; C3968; Xeroderma pigmentosum, complementation group F
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   29Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 18
//
RX   CelloPub=CLPUB00387;
RA   Coriell L.L., Greene A.E., Mulivor R.A.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 7th edition. October 1980.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980).
//
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=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).
//
RX   PubMed=3010096; DOI=10.1016/0167-8817(86)90052-0;
RA   Barbis D.P., Schultz R.A., Friedberg E.C.;
RT   "Isolation and partial characterization of virus-transformed cell
RT   lines representing the A, G and variant complementation groups of
RT   xeroderma pigmentosum.";
RL   Mutat. Res. 165:175-184(1986).
//
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).
//
RX   PubMed=3922833; DOI=10.20772/cancersci1985.76.3_162;
RA   Fujiwara Y., Satoh Y.;
RT   "Assignment of two Japanese xeroderma pigmentosum patients to
RT   complementation group D and their characteristics.";
RL   Jpn. J. Cancer Res. 76:162-166(1985).
//
RX   PubMed=4031543; DOI=10.1111/1523-1747.ep12276776;
RA   Ichihashi M., Fujiwara Y., Uehara Y., Matsumoto A.;
RT   "A mild form of xeroderma pigmentosum assigned to complementation
RT   group G and its repair heterogeneity.";
RL   J. Invest. Dermatol. 85:284-287(1985).
//
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).
//
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).
//
RX   PubMed=26184184; DOI=10.3390/ijms160715985;
RA   Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.;
RT   "Understanding xeroderma pigmentosum complementation groups using gene
RT   expression profiling after UV-light exposure.";
RL   Int. J. Mol. Sci. 16:15985-15996(2015).
//