ID   XP1TS
AC   CVCL_UH40
DR   JCRB; KURB1086
DR   Wikidata; Q98135492
RX   PubMed=9580660;
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Val605_Gly611del (c.1812_1832del); Zygosity=Hemizygous or homozygous (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   73Y
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 8
//
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).
//