Description:
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1
PALMITOYL-PROTEIN THIOESTERASE 1; PPT1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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SCOTTISH
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| palmitoyl-protein hydrolase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.2.22; 6-20% activity. |
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| Gene |
PPT1 |
| Chromosomal Location |
1p32 |
| Allelic Variant 1 |
600722.0002; CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC |
| Identified Mutation |
THR75PRO; Mitchison et al. (1998) found that a thr75-to-pro (T75P) missense mutation accounted for 9 of 22 disease chromosomes in 11 patients with juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (600680). In 1 of the 11 patients the T75P was homozygous; in 7 others it was present in compound heterozygous state with a nonsense mutation, either arg151-to-ter (R151X) or leu10-to-ter (L10X).
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| Gene |
PPT1 |
| Chromosomal Location |
1p32 |
| Allelic Variant 2 |
600722.0002; CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC |
| Identified Mutation |
THR75PRO; Mitchison et al. (1998) found that a thr75-to-pro (T75P) missense mutation accounted for 9 of 22 disease chromosomes in 11 patients with juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (600680). In 1 of the 11 patients the T75P was homozygous; in 7 others it was present in compound heterozygous state with a nonsense mutation, either arg151-to-ter (R151X) or leu10-to-ter (L10X).
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| Remarks |
IBR-BD Registry #1357UT7-01; cognitive difficulties began at age 7; now nursing home-bound at age 26; granular osmiophilic deposits (GROD); palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range, 1-3 pmoles/min/mg of protein); homozygous for a thr 75-to-pro missense mutation in exon 2 of the palmitoyl-protein thioesterase 1 (PPT1) gene resulting from an A to-C transversion at nucleotide 223 [THR75PRO (T75P)] |
| Das, A, Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J Clin Invest102(1998):361-370 1998 |
| PubMed ID: 9664077 |
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| Mitchison, H, Mutations in the palmitoyl-protein thioesterase gene (PPT;CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits Hum Mol Genet7(1998):291-297 1998 |
| PubMed ID: 9425237 |
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