ID   XP115LO 1
AC   CVCL_ZP87
SY   Xeroderma Pigmentosum 115 LOndon 1; GM02111; GM2111
DR   Coriell; GM02111
DR   Wikidata; Q98135225
RX   PubMed=6947227;
RX   PubMed=7059984;
RX   PubMed=7263770;
RX   PubMed=7326997;
CC   Population: Iranian.
CC   Sequence variation: Mutation; HGNC; 9181; POLH; Simple; p.Gln373Ter (c.1117C>T); ClinVar=VCV000005890; Zygosity=Homozygous (from autologous cell line XP115LO 2).
CC   Discontinued: Coriell; GM02111; probable.
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)
OI   CVCL_7358 ! XP115LO 2
SX   Male
AG   23Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
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RX   PubMed=6947227; DOI=10.1073/pnas.78.10.6236; PMCID=PMC349013;
RA   Miskin R., Ben-Ishai R.;
RT   "Induction of plasminogen activator by UV light in normal and
RT   xeroderma pigmentosum fibroblasts.";
RL   Proc. Natl. Acad. Sci. U.S.A. 78:6236-6240(1981).
//
RX   PubMed=7059984;
RA   Cleaver J.E.;
RT   "Inactivation of ultraviolet repair in normal and xeroderma
RT   pigmentosum cells by methyl methanesulfonate.";
RL   Cancer Res. 42:860-863(1982).
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RX   PubMed=7263770; DOI=10.1002/jcp.1041080207;
RA   Cleaver J.E.;
RT   "Sensitivity of excision repair in normal human, xeroderma pigmentosum
RT   variant and Cockayne's syndrome fibroblasts to inhibition by cytosine
RT   arabinoside.";
RL   J. Cell. Physiol. 108:163-173(1981).
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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).
//