ID   XP1CH [XP-V Cherevan]
AC   CVCL_7372
SY   Xeroderma Pigmentosum 1 CHerevan; GM03055; GM3055
DR   CLO; CLO_0013505
DR   BioSample; SAMN00808230
DR   Coriell; GM03055
DR   Wikidata; Q54837843
RX   CelloPub=CLPUB00447;
RX   PubMed=7326997;
RX   PubMed=10398605;
CC   Population: Caucasian; Russian Armenian.
CC   Sequence variation: Mutation; HGNC; 9181; POLH; Simple; p.Val125Ter (c.376C>T); Zygosity=Homozygous (PubMed=10398605).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C141367; Xeroderma pigmentosum variant type
DI   ORDO; Orphanet_90342; Xeroderma pigmentosum variant
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   28Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 20
//
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=7326997; DOI=10.1159/000131646;
RA   Cleaver J.E., Greene A.E., Coriell L.L., Mulivor R.A.;
RT   "Xeroderma pigmentosum variants.";
RL   Cytogenet. Cell Genet. 31:188-192(1981).
//
RX   PubMed=10398605; DOI=10.1126/science.285.5425.263;
RA   Johnson R.E., Kondratick C.M., Prakash S., Prakash L.;
RT   "hRAD30 mutations in the variant form of xeroderma pigmentosum.";
RL   Science 285:263-265(1999).
//