GM16106
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
|
White
|
Ethnicity
|
GERMAN
|
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 |
F84del; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 |
Identified Mutation |
255_257delCTT |
|
Gene |
PPT1 |
Chromosomal Location |
1p32 |
Allelic Variant 2 |
Q177E; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 |
Identified Mutation |
GLN177GLU |
Remarks |
IBR-BD Registry #1781/C12507; age of onset of 3 years; progressive 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); compound heterozygote; one allele carries a three base pair deletion (deltaCTT) that occured in a
small repeat at nucleotide positions 249-257 of the palmitoyl-protein thioesterase 1 (PPT1) cDNA. The consequence of this deletion is the loss of an invariant phenylalanine at amino acid position 84 [255-257FCTT(F84del)]. The second allele contains a gln177-to-glu missense mutation resulting from a C-to-G transversion at nucleotide 529 [GLN177GLU (Q177E)]. |
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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