ID   XP1MI 2
AC   CVCL_7351
SY   Xeroderma Pigmentosum 1 Miami 2; GM02096; GM-2096; GM 2096; GM2096
DR   CLO; CLO_0031821
DR   BioSample; SAMN00807484
DR   Coriell; GM02096
DR   Wikidata; Q54837300
RX   CelloPub=CLPUB00447;
RX   PubMed=3003928;
RX   PubMed=6492896;
RX   PubMed=7389185;
RX   PubMed=18809580;
RX   PubMed=23665875;
CC   Population: African American.
CC   Senescence: Senesces at 24 PDL (PubMed=3003928; PubMed=6492896).
CC   Sequence variation: Mutation; HGNC; 12816; XPC; Simple; p.Pro334His (c.1001C>A); ClinVar=VCV000000253; Zygosity=Homozygous (PubMed=18809580).
CC   Omics: CNV analysis.
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_U763 ! XP1MI 1
OI   CVCL_F029 ! XP1MI LCL
SX   Female
AG   15Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 20
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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).
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RX   PubMed=3003928; DOI=10.1007/BF01560723;
RA   Canaani D., Naiman T., Teitz T., Berg P.;
RT   "Immortalization of xeroderma pigmentosum cells by simian virus 40 DNA
RT   having a defective origin of DNA replication.";
RL   Somat. Cell Mol. Genet. 12:13-20(1986).
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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=7389185; DOI=10.1111/j.1399-0004.1980.tb00112.x;
RA   Hananian J., Cleaver J.E.;
RT   "Xeroderma pigmentosum exhibiting neurological disorders and systemic
RT   lupus erythematosus.";
RL   Clin. Genet. 17:39-45(1980).
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RX   PubMed=18809580; DOI=10.1128/mcb.00781-08;
RA   Bernardes de Jesus B.M., Bjoras M., Coin F., Egly J.-M.;
RT   "Dissection of the molecular defects caused by pathogenic mutations in
RT   the DNA repair factor XPC.";
RL   Mol. Cell. Biol. 28:7225-7235(2008).
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RX   PubMed=23665875; DOI=10.1534/g3.113.006577;
RA   Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M.,
RA   Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.;
RT   "A dynamic database of microarray-characterized cell lines with
RT   various cytogenetic and genomic backgrounds.";
RL   G3 (Bethesda) 3:1143-1149(2013).
//