ID   XP7KA
AC   CVCL_UH38
SY   Xeroderma Pigmentosum 7 KAnazawa
DR   JCRB; KURB1102
DR   Wikidata; Q98136109
RX   PubMed=9025096;
RX   PubMed=9580660;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Glu502Lys (c.1504G>A) (E491K); Zygosity=Heterozygous (PubMed=9580660).
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Ile529Thr (c.1586T>C) (I518T); 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   42Y
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 11
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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).
//
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).
//