NA02014
DNA from Fibroblast
Description:
MUCOLIPIDOSIS II; ML2; ML II
N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
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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 |
| Alternate IDs |
GM17041 [MUCOLIPIDOSIS II; ML2; ML II] |
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GM17331 [MUCOLIPIDOSIS II; ML2; ML II] |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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ARABIAN
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Family Member
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2
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Relation to Proband
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mother
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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 |
10 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
GNPTAB |
| Chromosomal Location |
12q23.3 |
| Allelic Variant 1 |
Y1079fsX1081; MUCOLIPIDOSIS II |
| Identified Mutation |
4-BP DUP, 3395CTAC |
| Remarks |
Arab; clinically unaffected mother of GM02013D; GlcNAc-Phosphotransferase activity = 58% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts); donor subject has one allele which has a duplication in exon 16 of the GNPTAB gene [3395_3398dupCTAC] resulting in a frameshift and truncation of the protein in the beta subunit [Y1079fsX1081]. |
| Kudo M, Brem MS, Canfield WM, Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase alpha / beta -Subunits Precursor Gene. Am J Hum Genet78(3):451-63 2006 |
| PubMed ID: 16465621 |
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| Jurevic RJ, Bai M, Chadwick RB, White TC, Dale BA, Single-nucleotide polymorphisms (SNPs) in human beta-defensin 1: high-throughput SNP assays and association with Candida carriage in type I diabetics and nondiabetic controls. J Clin Microbiol41(1):90-6 2003 |
| PubMed ID: 12517831 |
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| Brauker JH, Wang JL, Nonlysosomal processing of cell-surface heparan sulfate proteoglycans. Studies of I-cells and NH4Cl-treated normal cells. J Biol Chem262:13093-101 1987 |
| PubMed ID: 2958450 |
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