ID   GM02013
AC   CVCL_W640
SY   GM-2013; GM02013B; GM02013D
DR   CLO; CLO_0032309
DR   BioSample; SAMN00807386
DR   Coriell; GM02013
DR   Wikidata; Q54837237
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=16465621;
CC   Population: Arab.
CC   Sequence variation: Mutation; HGNC; 29670; GNPTAB; Simple; p.Tyr1079Leufs*3 (c.3231_3234dupCTAC) (3395_3398dupCTAC); ClinVar=VCV000038423; Zygosity=Heterozygous (PubMed=16465621).
CC   Sequence variation: Mutation; HGNC; 29670; GNPTAB; Simple; p.Leu1168Glnfs*5 (c.3501_3502TC[1]) (c.3503_3504delTC) (3665_3666delTC); ClinVar=VCV000002771; Zygosity=Heterozygous (PubMed=16465621).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C61270; I-cell disease
DI   ORDO; Orphanet_576; Mucolipidosis type II
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2W
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 29-06-23; Version: 15
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=16465621; DOI=10.1086/500849; PMCID=PMC1380288;
RA   Kudo M., Brem M.S., Canfield W.M.;
RT   "Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical
RT   pseudo-Hurler polydystrophy) are caused by mutations in the
RT   GlcNAc-phosphotransferase alpha/beta-subunits precursor gene.";
RL   Am. J. Hum. Genet. 78:451-463(2006).
//