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GM16085 LCL from B-Lymphocyte

Description:

CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1
PALMITOYL-PROTEIN THIOESTERASE 1; PPT1

Affected:

Yes

Sex:

Female

Age:

26 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable 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 SCOTTISH
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks IBR-BD Registry #1357UT7-01; cognitive difficulties began at age 7; now nursing home-bound at age 26; granular osmiophilic deposits (GROD); palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range, 1-3 pmoles/min/mg of protein); homozygous for a thr 75-to-pro missense mutation in exon 2 of the palmitoyl-protein thioesterase 1 (PPT1) gene resulting from an A to-C transversion at nucleotide 223 [THR75PRO (T75P)]

Characterizations

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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.
 
Gene PPT1
Chromosomal Location 1p32
Allelic Variant 1 600722.0002; CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC
Identified Mutation THR75PRO; Mitchison et al. (1998) found that a thr75-to-pro (T75P) missense mutation accounted for 9 of 22 disease chromosomes in 11 patients with juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (600680). In 1 of the 11 patients the T75P was homozygous; in 7 others it was present in compound heterozygous state with a nonsense mutation, either arg151-to-ter (R151X) or leu10-to-ter (L10X).
 
Gene PPT1
Chromosomal Location 1p32
Allelic Variant 2 600722.0002; CEROID LIPOFUSCINOSIS, JUVENILE NEURONAL, WITH GRANULAR OSMIOPHILIC
Identified Mutation THR75PRO; Mitchison et al. (1998) found that a thr75-to-pro (T75P) missense mutation accounted for 9 of 22 disease chromosomes in 11 patients with juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (600680). In 1 of the 11 patients the T75P was homozygous; in 7 others it was present in compound heterozygous state with a nonsense mutation, either arg151-to-ter (R151X) or leu10-to-ter (L10X).

Phenotypic Data

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Remarks IBR-BD Registry #1357UT7-01; cognitive difficulties began at age 7; now nursing home-bound at age 26; granular osmiophilic deposits (GROD); palmitoyl-protein thioesterase activity <0.2 pmoles/min/mg of protein (normal range, 1-3 pmoles/min/mg of protein); homozygous for a thr 75-to-pro missense mutation in exon 2 of the palmitoyl-protein thioesterase 1 (PPT1) gene resulting from an A to-C transversion at nucleotide 223 [THR75PRO (T75P)]

Publications

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Das, A, Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J Clin Invest102(1998):361-370 1998
PubMed ID: 9664077
 
Mitchison, H, Mutations in the palmitoyl-protein thioesterase gene (PPT;CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits Hum Mol Genet7(1998):291-297 1998
PubMed ID: 9425237

External Links

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dbSNP dbSNP ID: 22431
Gene Cards PPT1
Gene Ontology GO:0005764 lysosome
GO:0006464 protein modification
GO:0007399 neurogenesis
GO:0007601 visual perception
GO:0008474 palmitoyl-(protein) hydrolase activity
GO:0016787 hydrolase activity
NCBI Gene Gene ID:5538
NCBI GTR 256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1
600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1
OMIM 256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1
600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1
Omim Description CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE; CLN1
  INFANTILE NEURONAL CEROID LIPOFUSCINOSIS; INCL
  NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE FINNISH TYPE; NCL
  SANTAVUORI DISEASE
  SANTAVUORI-HALTIA DISEASE

Culture Protocols

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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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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