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GM20387 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Male

Age:

18 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
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
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; intelligence declined at age 2 years; seizures and movement dysfunction at age 2 years; EM showed curvilinear profile; donor subject is a compound heterozygote: one allele has a G>C transversion of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence in the CLN2 (TPP1) gene [IVS5-1G>C] 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 607998.0004; CEROID LIPOFUSCINOSIS, NEURONAL 2
Identified Mutation IVS5AS, G>C, -1; Sleat et al. [Science 277: 1802-1805, (1997)] described compound heterozygosity in 2 sibs with LINCL. One allele carried the arg208-to-ter nonsense mutation (204500.0003); the other allele showed a splice site mutation, a G-to-C transversion of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence.
 
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; intelligence declined at age 2 years; seizures and movement dysfunction at age 2 years; EM showed curvilinear profile; donor subject is a compound heterozygote: one allele has a G>C transversion of the consensus AG 3-prime splice acceptor site immediately preceding 523T of the cDNA sequence in the CLN2 (TPP1) gene [IVS5-1G>C] 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

Culture Protocols

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