ID   GM02558
AC   CVCL_9R70
DR   CLO; CLO_0033440
DR   Coriell; GM02558
DR   Wikidata; Q54837548
RX   CelloPub=CLPUB00447;
RX   PubMed=16465621;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 29670; GNPTAB; Simple; p.Gln278Ter (c.832C>T); ClinVar=VCV000038433; Zygosity=Heterozygous (PubMed=16465621).
CC   Sequence variation: Mutation; HGNC; 29670; GNPTAB; Simple; c.3335+6T>G (IVS17+6T>G); ClinVar=VCV000002773; Zygosity=Heterozygous (PubMed=16465621).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C125595; Mucolipidosis type IIIA
DI   ORDO; Orphanet_423461; Mucolipidosis type III alpha/beta
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   9Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 29-06-23; 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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
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).
//