GM16082
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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White
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Ethnicity
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ENGLISH
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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 |
W296X; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 |
| Identified Mutation |
TRP296TER |
| |
| Gene |
PPT1 |
| Chromosomal Location |
1p32 |
| Allelic Variant 1 |
Q177E; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 |
| Identified Mutation |
GLN177GLU |
| Remarks |
IBR-BD Registry #1639/UT2-01; age of onset at 3.5 years with seizures; deterioration after 4 years of age; granular osmiophilic deposits (GROD) on skin biopsy at age 6; 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 a trp 296-to-ter nonsense mutation resulting from a G-to-A substitution at nucleotide 888 [TRP296TER (W296X)] in exon 9 of the palmitoyl-protein thioesterase 1 (PPT1) gene; second allele contains a gln177-to-glu missense mutation in exon 5 resulting from a C-to-G transversion at nucleotide 529 [GLN177GLU (Q177E)] |
| Das, A, Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J Clin Invest102(1998):361-370 1998 |
| PubMed ID: 9664077 |
| Split Ratio |
1:3 |
| 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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