ID   GM01006
AC   CVCL_UA02
SY   GM 1006; GM1006
DR   Coriell; GM01006
DR   Wikidata; Q93568868
RX   PubMed=113895;
RX   PubMed=16465621;
CC   Sequence variation: Mutation; HGNC; HGNC:29670; GNPTAB; Simple; c.3435-1G>A (IVS19-1G>A); ClinVar=VCV000038427; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=16465621).
CC   Sequence variation: Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Leu1168Glnfs*5 (c.3501_3502TC[1]) (c.3503_3504delTC) (3665_3666delTC); ClinVar=VCV000002771; Zygosity=Heterozygous (PubMed=16465621).
CC   Discontinued: Coriell; GM01006; probable.
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)
CA   Finite cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=113895; DOI=10.1007/BF01539157;
RA   Shows T.B., Scrafford-Wolff L.R., Brown J.A., Meisler M.H.;
RT   "GM1-gangliosidosis: chromosome 3 assignment of the
RT   beta-galactosidase-A gene (beta GALA).";
RL   Somatic Cell Genet. 5:147-158(1979).
//
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).
//