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NA20377 DNA from LCL

Description:

CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2
CLN2 GENE; CLN2

Affected:

Yes

Sex:

Male

Age:

5 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of the Nervous System
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; speech and intelligence regression evident at age 2.5 years; seizures at age 3 years; EM showed curvilinear profile; donor subject is a compound heterozygote: one allele has a 11-nucleotide deletion c.376_380+6del and a second allele has a C>T transition at nucleotide 622 in exon 6 of the CLN2 (TPP1) gene [622C>T] resulting in a substitution of a termination signal for arginine at codon 208 [Arg208Ter (R208X)].

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene CLN2
Chromosomal Location 11p15.5
Allelic Variant 1 ; CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2
Identified Mutation c.376_380+6del
 
Gene CLN2
Chromosomal Location 11p15.5
Allelic Variant 2 607998.0003; CEROID LIPOFUSCINOSIS, NEURONAL 2
Identified Mutation ARG208TER; In two sibs with late-infantile neuronal ceroid lipofuscinosis (LINCL), Sleat et al. [Science 277: 1802-1805, (1997)] found compound heterozygosity for a C-to-T transition that resulted in the conversion of codon 208 (CGA) to a stop codon (TGA). In the other allele, the conserved AG of the intronic 3-prime splice junction sequence was changed to AC, which was predicted to result in intron splicing (204500.0004). Each parent possessed a single different mutant allele.

Phenotypic Data

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Remarks Clinically affected; speech and intelligence regression evident at age 2.5 years; seizures at age 3 years; EM showed curvilinear profile; donor subject is a compound heterozygote: one allele has a 11-nucleotide deletion c.376_380+6del and a second allele has a C>T transition at nucleotide 622 in exon 6 of the CLN2 (TPP1) gene [622C>T] resulting in a substitution of a termination signal for arginine at codon 208 [Arg208Ter (R208X)].

Publications

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Zhong N, Moroziewicz DN, Ju W, Jurkiewicz A, Johnston L, Wisniewski KE, Brown WT, Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. Genet Med2(6):312-8 2000
PubMed ID: 11339651

External Links

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Gene Cards CLN2
TPP1
Gene Ontology GO:0004252 serine-type endopeptidase activity
GO:0005764 lysosome
GO:0006508 proteolysis and peptidolysis
GO:0006629 lipid metabolism
GO:0007399 neurogenesis
GO:0008233 peptidase activity
GO:0019131 tripeptidyl-peptidase I activity
NCBI Gene Gene ID:1200
NCBI GTR 204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2
607998 TRIPEPTIDYL PEPTIDASE I; TPP1
OMIM 204500 CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2
607998 TRIPEPTIDYL PEPTIDASE I; TPP1
Omim Description AMAUROTIC IDIOCY, LATE INFANTILE TYPE
  CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2
  JANSKY-BIELSCHOWSKY DISEASE
  NCL, LATE INFANTILE TYPE
  NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE TYPE; LINCL
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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