ID   GM02017
AC   CVCL_M992
SY   GM-2017; GM 02017; GM17333
DR   CLO; CLO_0013617
DR   CLO; CLO_0032316
DR   BioSample; SAMN00807392
DR   Coriell; GM02017
DR   Coriell; GM17333
DR   Wikidata; Q54837240
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=8328452;
CC   Part of: Human variation panel.
CC   Population: Arab.
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   Male
AG   40Y
CA   Finite cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 12
//
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).
//