ID   GM06214
AC   CVCL_1V16
SY   GM 06214
DR   CLO; CLO_0023147
DR   Coriell; GM06214
DR   Wikidata; Q54842221
RX   CelloPub=CLPUB00447;
RX   PubMed=8328452;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 5391; IDUA; Simple; p.Trp402Ter (c.1205G>A); ClinVar=VCV000011908; Zygosity=Homozygous (Coriell=GM06214).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C61261; Hurler syndrome
DI   ORDO; Orphanet_93473; Hurler syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 13
//
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   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).
//