Description:
MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C
N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTG
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Ethnicity
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IRANIAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
11 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
GNPTG |
| Chromosomal Location |
16p |
| Allelic Variant 1 |
; MUCOLIPIDOSIS III |
| Identified Mutation |
445delG |
| |
| Gene |
GNPTG |
| Chromosomal Location |
16p |
| Allelic Variant 2 |
; MUCOLIPIDOSIS III |
| Identified Mutation |
445delG |
| Remarks |
Iranian; similarly affected sib; deficient fibroblast Alpha-L-iduronidase, arylsulfatase A, hexosaminidase A and B, B-galactosidase, A-fucosidase, A-galactosidase, and A-mannosidase activity; complementation group C; possible variant; donor subject is homozygous for a 1-bp deletion at nucleotide 445 of the GNPTG gene [445delG]
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| Chen Y1,2, Jian J1, Hettinghouse A1, Zhao X3, Setchell KDR3, Sun Y3, Liu CJ4,5, Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease J Mol Med96:1359-1373 2018 |
| PubMed ID: 30341570 |
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| Flint M, Chatterjee P, Lin DL, McMullan LK, Shrivastava-Ranjan P, Bergeron É, Lo MK, Welch SR, Nichol ST, Tai AW, Spiropoulou CF, A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus Nature communications10:285 2018 |
| PubMed ID: 30655525 |
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| Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W, A phenotypic compound screening assay for lysosomal storage diseases Journal of biomolecular screening19:168-75 2013 |
| PubMed ID: 23983233 |
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| Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, Zeigler M, Mandel H, Toth S, Roe B, Munnich A, Canfield WM, Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) [see comments] J Clin Invest105:673-81 2000 |
| PubMed ID: 10712439 |
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| Valenzano KJ, Kallay LM, Lobel P, An assay to detect glycoproteins that contain mannose 6-phosphate. Anal Biochem209:156-62 1993 |
| PubMed ID: 8465950 |
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| Little LE, Mueller OT, Honey NK, Shows TB, Miller AL, Heterogeneity of N-acetylglucosamine 1-phosphotransferase within mucolipidosis III. J Biol Chem261:733-8 1986 |
| PubMed ID: 3001079 |
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| Mueller OT, Honey NK, Little LE, Miller AL, Shows TB, Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis. J Clin Invest72:1016-23 1983 |
| PubMed ID: 6309902 |
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| Honey NK, Mueller OT, Little LE, Miller AL, Shows TB, Mucolipidosis III is genetically heterogeneous. Proc Natl Acad Sci U S A79:7420-4 1982 |
| PubMed ID: 6961420 |
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| Reitman ML, Varki A, Kornfeld S, Fibroblasts from patients with I-cell disease and pseudo-Hurler polydystrophy are deficient in uridine 5'-diphosphate-N- acetylglucosamine: glycoprotein N-acetylglucosaminylphosphotransferase activity. J Clin Invest67:1574-9 1981 |
| PubMed ID: 6262380 |
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| Varki AP, Reitman ML, Kornfeld S, Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N- acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes. Proc Natl Acad Sci U S A78:7773-7 1981 |
| PubMed ID: 6461005 |
| Passage Frozen |
11 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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