ID   GM02046
AC   CVCL_L761
SY   GM-2046
DR   CLO; CLO_0032557
DR   BioSample; SAMN00807422
DR   Coriell; GM02046
DR   Wikidata; Q54837261
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=16465621;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:29670; GNPTAB; Simple; p.Leu730Lysfs*7 (c.2188delTinsAAA) (2352delTinsAAA); ClinVar=VCV000038418; Zygosity=Heterozygous (PubMed=16465621).
CC   Cell type: Fibroblast; CL=CL_0000057.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   25Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 15
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur 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, Mariko
RA   Brem, Michael S.
RA   Canfield, William 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).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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).
//