GM16107
LCL from B-Lymphocyte
Description:
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1
PALMITOYL-PROTEIN THIOESTERASE 1; PPT1
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Lysosomal Storage Diseases |
Class |
Disorders of the Nervous System |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
Other
|
Ethnicity
|
ARABIAN/MOROCCAN
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
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. |
|
Gene |
PPT1 |
Chromosomal Location |
1p32 |
Allelic Variant 1 |
R164X; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 |
Identified Mutation |
ARG164TER |
Remarks |
IBR-BD Registry #1576/C10949; age of onset of 18 months;
progressive visual and cognitive 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); 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 |
Das, A, Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J Clin Invest102(1998):361-370 1998 |
PubMed ID: 9664077 |
|
Wisniewski, K E, Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL Pediatr Neurol18(1998):119-23 1998 |
PubMed ID: 9535296 |
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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