ID   XP101OS
AC   CVCL_UH37
SY   Xeroderma Pigmentosum 101 OSaka
DR   JCRB; KURB1090
DR   JCRB; KURB1091
DR   Wikidata; Q98135159
RX   PubMed=1814424;
RX   PubMed=2570806;
RX   PubMed=3834095;
RX   PubMed=9580660;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Ile225Met (c.675A>G) (I214M); Zygosity=Heterozygous (PubMed=9580660).
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Gly513Arg (c.1537G>A) (G502R); 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   49Y
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 10
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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=2570806; DOI=10.1111/1523-1747.ep12284030;
RA   Chang H.-R., Ishizaki K., Sasaki M.S., Toguchida J., Kato M.,
RA   Nakamura Y., Kawamura S., Moriguchi T., Ikenaga M.;
RT   "Somatic mosaicism for DNA repair capacity in fibroblasts derived from
RT   a group A xeroderma pigmentosum patient.";
RL   J. Invest. Dermatol. 93:460-465(1989).
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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=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).
//