ID   GM03685
AC   CVCL_9R79
DR   CLO; CLO_0015483
DR   BioSample; SAMN00808496
DR   Coriell; GM03685
DR   Wikidata; Q54838189
RX   CelloPub=CLPUB00447;
RX   PubMed=16465621;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 29670; GNPTAB; Simple; c.3335+6T>G (IVS17+6T>G); ClinVar=VCV000002773; 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; C125595; Mucolipidosis type IIIA
DI   ORDO; Orphanet_423461; Mucolipidosis type III alpha/beta
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15Y
CA   Finite cell line
DT   Created: 23-02-16; 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   PubMed=16465621; DOI=10.1086/500849;
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).
//