GM16109
LCL from B-Lymphocyte
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
Lysosomal Storage Diseases |
| Class |
Disorders of the Nervous System |
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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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LCL from B-Lymphocyte
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Race
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Black/African American
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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 |
| |
| 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 |
R164X; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 |
| Identified Mutation |
ARG164TER |
| |
| Gene |
PPT1 |
| Chromosomal Location |
1p32 |
| Allelic Variant 2 |
Q291X; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 |
| Identified Mutation |
GLN291TER |
| Remarks |
IBR-BD Registry #1778/UT28-01; age of onset of 15 months;
progressive cognitive/motor difficulties; granular osmiophilic deposits
(GROD); palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of
protein (normal range, 1-3 pmoles/min/mg of protein); compound
heterozygote; one allele carries an arg164-to-ter nonsense mutation
resulting from a C-to-T substitution at nucleotide 490 [ARG164TER (R164X)]
in exon 5 of the palmitoyl-protein thioesterase 1 (PPT1) gene; a second
allele carries a gln 291-to-ter nonsense mutation resulting from a C-to-T
substitution at nucleotide 871 [GLN291TER (Q291X)] in exon 9 |
| Waliany, Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis Hum MutatMutation in Brief #290 (online):1-5 1999 |
| PubMed ID: |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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