ID   GM09948
AC   CVCL_N127
SY   GM9948; 9948; GM09948A; GM17235
DR   CLO; CLO_0014334
DR   CLO; CLO_0029744
DR   Coriell; GM09948
DR   Coriell; GM17235
DR   GEO; GSM569605
DR   GEO; GSM596299
DR   GEO; GSM596659
DR   GEO; GSM924837
DR   Wikidata; Q54844134
RX   CelloPub=CLPUB00447;
RX   CelloPub=CLPUB00756;
RX   CelloPub=CLPUB00757;
RX   PubMed=8530025;
RX   PubMed=14583597;
RX   PubMed=14642717;
RX   PubMed=16260726;
RX   PubMed=20889555;
RX   PubMed=24266330;
RX   PubMed=26621101;
RX   PubMed=29959025;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Part of: Human variation panel.
CC   Registration: National Institute of Standards and Technology, Standard Reference Materials; SRM 2391b.
CC   Population: Caucasian.
CC   Biotechnology: Used a source of control genomic DNA for USA forensic testing.
CC   HLA typing: A*03:01:01,31:01:02; B*07:02:01,40:01:02; C*03:04:01,07:02:01; DPA1*01:03:01,01:03:01; DPB1*04:01:01,04:01:01; DQA1*01:02:01,03:01:01; DQB1*03:02:01,06:02:01; DRB1*04:04:01,15:01:01; DRB4*01:03:01; DRB5*01:01:01 (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.
ST   Source(s): CelloPub=CLPUB00756; CelloPub=CLPUB00757; PubMed=14642717; PubMed=24266330
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11,12
ST   D10S1248: 12,15
ST   D12S391: 18,24
ST   D13S317: 11
ST   D16S539: 11
ST   D18S51: 15,18
ST   D19S433: 13,14
ST   D1S1656: 14,17
ST   D21S11: 29,30
ST   D22S1045: 16,18
ST   D2S1338: 23
ST   D2S441: 11,12
ST   D3S1358: 15,17
ST   D5S818: 11,13
ST   D7S820: 11
ST   D8S1179: 12,13
ST   DXS101: 25
ST   DYS391: 10
ST   F13A01: 6
ST   F13B: 8
ST   FESFPS: 11
ST   FGA: 24,26
ST   LPL: 10,12
ST   Penta D: 8,12
ST   Penta E: 11
ST   SE33: 23.2,26.2
ST   TH01: 6,9.3
ST   TPOX: 8,9
ST   vWA: 17
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   31Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 22
//
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   CelloPub=CLPUB00756;
RG   National Institute of Standards and Technology;
RT   "Certificate of analysis: Standard Reference Material 2391b.";
RL   (In) NIST SRM 2391b; pp.1-8; NIST; Gaithersburg (2008).
//
RX   CelloPub=CLPUB00757;
RG   Promega Corporation;
RT   "PowerPlex Fusion 6C system. Instructions for use of products DC2705 and
RT   DC2720.";
RL   (In) Promega Technical manual TMD045; pp.1-75; Promega Corp.; Madison (2015).
//
RX   PubMed=8530025; DOI=10.1006/geno.1995.1130;
RA   Fregeau C.J., Aubin R.A., Elliott J.C., Gill S.S., Fourney R.M.;
RT   "Characterization of human lymphoid cell lines GM9947 and GM9948 as
RT   intra- and interlaboratory reference standards for DNA typing.";
RL   Genomics 28:184-197(1995).
//
RX   PubMed=14583597; DOI=10.1152/physiolgenomics.00163.2003;
RA   Pastinen T., Sladek R., Gurd S., Sammak A., Ge B., Lepage P.,
RA   Lavergne K., Villeneuve A., Gaudin T., Brandstrom H., Beck A.,
RA   Verner A., Kingsley J., Harmsen E., Labuda D., Morgan K., Vohl M.-C.,
RA   Naumova A.K., Sinnett D., Hudson T.J.;
RT   "A survey of genetic and epigenetic variation affecting human gene
RT   expression.";
RL   Physiol. Genomics 16:184-193(2004).
//
RX   PubMed=14642717; DOI=10.1016/j.forsciint.2003.09.002;
RA   Szibor R., Edelmann J., Hering S., Plate I., Wittig H., Roewer L.,
RA   Wiegand P., Cali F., Romano V., Michael M.;
RT   "Cell line DNA typing in forensic genetics -- the necessity of reliable
RT   standards.";
RL   Forensic Sci. Int. 138:37-43(2003).
//
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=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=24266330; DOI=10.1021/ac403137h;
RA   Geng T., Novak R., Mathies R.A.;
RT   "Single-cell forensic short tandem repeat typing within microfluidic
RT   droplets.";
RL   Anal. Chem. 86:703-712(2014).
//
RX   PubMed=26621101; DOI=10.1016/j.jmoldx.2015.08.005;
RA   Pratt V.M., Everts R.E., Aggarwal P., Beyer B.N., Broeckel U.,
RA   Epstein-Baak R., Hujsak P., Kornreich R., Liao J., Lorier R.,
RA   Scott S.A., Smith C.-Y.H., Toji L.H., Turner A., Kalman L.V.;
RT   "Characterization of 137 genomic DNA reference materials for 28
RT   pharmacogenetic genes: a GeT-RM collaborative project.";
RL   J. Mol. Diagn. 18:109-123(2016).
//
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).
//