GM20380
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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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 LINE assay |
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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 |
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| Gene |
PPT1 |
| Chromosomal Location |
1p32 |
| Allelic Variant 1 |
600722.0006; CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC |
| Identified Mutation |
ARG151TER; In 7 of 22 disease chromosomes from 11 patients with the JNCL/GROD (600680) variant, Mitchison et al. (1998) found an arg151-to-ter (R151X) nonsense mutation. In each case it was found in compound heterozygous state with a missense mutation.
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| Gene |
PPT1 |
| Chromosomal Location |
1p32 |
| Allelic Variant 2 |
V181M; CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1 |
| Identified Mutation |
VAL181MET |
| Remarks |
Clinically affected; coordination problems at age 1.5 years; intelligence regressed at age 2 years; movement dysfunction at age 3 years; seizures at age 3 years; EM showed mixed profile with curvilinear and granular osmiophillic deposits; deficient palmitoyl-protein thioesterase 1 activity; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 451 in exon 5 of the PPT1 gene [451C>T] resulting in a substitution of a termination signal for arginine at codon 151 [Arg151Ter (R151X)] and a second allele has a G>A transition at nucleotide 541 in exon 6 of the PPT1 gene [541G>A] resulting in a substitution of methionine for valine at codon 181 [Val181Met (V181M)]. |
| Split Ratio |
1:2 |
| 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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