ID   XP5MA
AC   CVCL_M283
SY   Xeroderma Pigmentosum 5 MAnnheim; GM03379; GM3379
DR   CLO; CLO_0016680
DR   BioSample; SAMN00808379
DR   Coriell; GM03379
DR   Wikidata; Q54838036
RX   CelloPub=CLPUB00447;
RX   PubMed=2054785;
RX   PubMed=6492896;
RX   PubMed=7165374;
RX   PubMed=7263770;
RX   PubMed=7326997;
RX   PubMed=10398605;
CC   Population: Caucasian; German.
CC   Senescence: Senesces at 19 PDL (PubMed=6492896).
CC   Sequence variation: Mutation; HGNC; 9181; POLH; Simple; p.Lys220fs (c.661_764del); 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   Female
AG   86Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 16
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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=2054785;
RA   Thielmann H.W., Popanda O., Edler L., Jung E.G.;
RT   "Clinical symptoms and DNA repair characteristics of xeroderma
RT   pigmentosum patients from Germany.";
RL   Cancer Res. 51:3456-3470(1991).
//
RX   PubMed=6492896; DOI=10.1016/0047-6374(84)90044-7;
RA   Cleaver J.E.;
RT   "DNA repair deficiencies and cellular senescence are unrelated in
RT   xeroderma pigmentosum cell lines.";
RL   Mech. Ageing Dev. 27:189-196(1984).
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RX   PubMed=7165374; DOI=10.1007/BF00403726;
RA   Fischer E., Thielmann H.W., Neundorfer B., Rentsch F.J., Edler L.,
RA   Jung E.G.;
RT   "Xeroderma pigmentosum patients from Germany: clinical symptoms and
RT   DNA repair characteristics.";
RL   Arch. Dermatol. Res. 274:229-247(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).
//
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).
//