ID   GM02016
AC   CVCL_M991
SY   GM-2016; GM 02016; GM17042; GM17332
DR   CLO; CLO_0013619
DR   CLO; CLO_0014644
DR   CLO; CLO_0032306
DR   BioSample; SAMN00807390
DR   Coriell; GM02016
DR   Coriell; GM17042
DR   Coriell; GM17332
DR   Wikidata; Q54837239
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=8328452;
RX   PubMed=20889555;
RX   PubMed=29959025;
CC   Part of: Genetic Testing Reference Material (GeT-RM) samples.
CC   Part of: Human variation panel.
CC   Population: Arab.
CC   HLA typing: A*02:01:01,30:02:01; B*53:01:01,58:01:01; C*04:01:01,07:18; DPA1*01:03:01,01:03:01; DPB1*02:01:02,03:01:01; DQA1*01:05:01,04:01:02; DQB1*04:02:01,05:01:01; DRB1*08:04:01,14:54:01; DRB3*02:02:01 (PubMed=29959025).
CC   Sequence variation: Mutation; HGNC; 5391; IDUA; Simple; p.Gly409Arg (c.1225G>C); ClinVar=VCV000092627; Zygosity=Heterozygous (PubMed=8328452).
CC   Sequence variation: Mutation; HGNC; 5391; IDUA; Simple; p.Ter654Cysext*38 (c.1962A>T); ClinVar=VCV000242721; Zygosity=Heterozygous (PubMed=8328452).
CC   Cell type: Fibroblast; CL=CL_0000057.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   35Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 14
//
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=8328452;
RA   Bach G., Moskowitz S.M., Tieu P.T., Matynia A., Neufeld E.F.;
RT   "Molecular analysis of Hurler syndrome in Druze and Muslim Arab
RT   patients in Israel: multiple allelic mutations of the IDUA gene in a
RT   small geographic area.";
RL   Am. J. Hum. Genet. 53:330-338(1993).
//
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=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).
//