ID   GM02184
AC   CVCL_D860
SY   GM-2184; GM 2184; GM2184A; GM02184B; GM02184C; GM2184c; GM02184D; GM17220
DR   CLO; CLO_0014375
DR   CLO; CLO_0031785
DR   BioSample; SAMN00807586
DR   Coriell; GM02184
DR   Coriell; GM17220
DR   GEO; GSM569534
DR   GEO; GSM596284
DR   GEO; GSM596644
DR   GEO; GSM924822
DR   Wikidata; Q54837358
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=6661932;
RX   PubMed=9497252;
RX   PubMed=12419185;
RX   PubMed=16260726;
RX   PubMed=18809580;
RX   PubMed=20889555;
RX   PubMed=26651604;
RX   PubMed=29959025;
WW   https://strap.nci.nih.gov/celline_detail.php?sample_id=91
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Part of: Human variation panel.
CC   Population: Caucasian.
CC   HLA typing: A*24:02:01,30:02:01; B*18:01:01,49:01:01; C*05:01:01,07:01:01; DPA1*01:03:01,01:03:01; DPB1*02:01:02,02:02:01; DQA1*05:01:01,05:05:01; DQB1*02:01:01,03:01:01; DRB1*03:01:01,11:04:01; DRB3*02:02:01,02:02:01 (PubMed=29959025).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: DNA methylation analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7354 ! GM02185
SX   Male
AG   36Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 23
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=6661932; DOI=10.1159/000131990;
RA   Aronson M.M., Nichols W.W., Mulivor R.A., Greene A.E., Coriell L.L.;
RT   "Chromosome maps of cell lines with specific monosomic or trisomic
RT   portions of the genome in the NIGMS Human Genetic Mutant Cell
RT   Repository.";
RL   Cytogenet. Cell Genet. 36:652-658(1983).
//
RX   PubMed=9497252; DOI=10.1086/301755;
RA   Gilad S., Chessa L., Khosravi R., Russell P., Galanty Y., Piane M.,
RA   Gatti R.A., Jorgensen T.J., Shiloh Y., Bar-Shira A.;
RT   "Genotype-phenotype relationships in ataxia-telangiectasia and
RT   variants.";
RL   Am. J. Hum. Genet. 62:551-561(1998).
//
RX   PubMed=12419185; DOI=10.1016/S0960-9822(02)01259-9;
RA   Kobayashi J., Tauchi H., Sakamoto S., Nakamura A., Morishima K.-i.,
RA   Matsuura S., Kobayashi T., Tamai K., Tanimoto K., Komatsu K.;
RT   "NBS1 localizes to gamma-H2AX foci through interaction with the
RT   FHA/BRCT domain.";
RL   Curr. Biol. 12:1846-1851(2002).
//
RX   PubMed=16260726; DOI=10.1073/pnas.0508390102;
RA   Harris S.L., Gil G., Robins H., Hu W.-W., Hirshfield K.M., Bond E.,
RA   Bond G., Levine A.J.;
RT   "Detection of functional single-nucleotide polymorphisms that affect
RT   apoptosis.";
RL   Proc. Natl. Acad. Sci. U.S.A. 102:16297-16302(2005).
//
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).
//
RX   PubMed=20889555; DOI=10.2353/jmoldx.2010.100090;
RA   Pratt V.M., Zehnbauer B.A., Wilson J.A., Epstein-Baak R., Babic N.,
RA   Bettinotti M.P., Buller-Burckle A.M., Butz K.G., Campbell M.,
RA   Civalier C., El-Badry A., Farkas D.H., Lyon E., Mandal S., McKinney J.,
RA   Muralidharan K., Noll L., Sander T., Shabbeer J., Smith C.-Y.H.,
RA   Telatar M., Toji L.H., Vairavan A., Vance C., Weck K.E., Wu A.H.B.,
RA   Yeo K.-T.J., Zeller M., Kalman L.V.;
RT   "Characterization of 107 genomic DNA reference materials for CYP2D6,
RT   CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for
RT   Molecular Pathology collaborative project.";
RL   J. Mol. Diagn. 12:835-846(2010).
//
RX   PubMed=26651604; DOI=10.1016/j.stemcr.2015.11.004;
RA   Schwab A.J., Ebert A.D.;
RT   "Neurite aggregation and calcium dysfunction in iPSC-derived sensory
RT   neurons with Parkinson's disease-related LRRK2 G2019S mutation.";
RL   Stem Cell Reports 5:1039-1052(2015).
//
RX   PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009;
RA   Bettinotti M.P., Ferriola D., Duke J.L., Mosbruger T.L., Tairis N.,
RA   Jennings L., Kalman L.V., Monos D.S.;
RT   "Characterization of 108 genomic DNA reference materials for 11 human
RT   leukocyte antigen loci: a GeT-RM collaborative project.";
RL   J. Mol. Diagn. 20:703-715(2018).
//