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GM09404 Fibroblast

Description:

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

Affected:

Yes

Sex:

Female

Age:

No Data

  • 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
Pharmacogenetics
Class Disorders of the Nervous System
Cell Type Fibroblast
Transformant Untransformed
Race Asian
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Seizures, myoclonus, dementia, and spasticity; a brother died at age 11 with the same disease; diagnosis is most consistent with late infantile amaurotic idiocy; slightly elevated urinary dolichol; CLN2 protease deficient; the donor subject has one allele which carries a T-to-A transition at nucleotide g.4023 (c.860T>A) which converts the ile-287 codon (ATC) to asn (AAC), resulting in a missense mutation in exon 7 of the CLN2 (TPP1) gene [Ile287Asn (I287N)].

Characterizations

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Passage Frozen 14
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene CLN2
Chromosomal Location 11p15.5
Allelic Variant 1 I287N; CEROID LIPOFUSCINOSIS, NEURONAL 2
Identified Mutation ILE287ASN
 
Gene CYP2D6
Chromosomal Location 22q13.1
Allelic Variant 1 124030.0005; DEBRISOQUINE, POOR METABOLISM OF
Identified Mutation PRO34SER; This allelic variant is also known as CYP2D6*10 or CYP2D6(J) or CYP2D6(Ch1, Ch2). Kagimoto et al. (J Biol Chem 265:17209-17214, 1990) identified a 188C-T transition in exon 1 of the CYP2D6 gene, resulting in a pro34-to-ser (P34S) substitution as a cause of the debrisoquine poor metabolizer phenotype (608902).
 
Gene CYP2D6
Chromosomal Location 22q13.1
Allelic Variant 2 124030.0005; DEBRISOQUINE, POOR METABOLISM OF
Identified Mutation PRO34SER; This allelic variant is also known as CYP2D6*10 or CYP2D6(J) or CYP2D6(Ch1, Ch2). Kagimoto et al. (J Biol Chem 265:17209-17214, 1990) identified a 188C-T transition in exon 1 of the CYP2D6 gene, resulting in a pro34-to-ser (P34S) substitution as a cause of the debrisoquine poor metabolizer phenotype (608902).

Phenotypic Data

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Remarks Seizures, myoclonus, dementia, and spasticity; a brother died at age 11 with the same disease; diagnosis is most consistent with late infantile amaurotic idiocy; slightly elevated urinary dolichol; CLN2 protease deficient; the donor subject has one allele which carries a T-to-A transition at nucleotide g.4023 (c.860T>A) which converts the ile-287 codon (ATC) to asn (AAC), resulting in a missense mutation in exon 7 of the CLN2 (TPP1) gene [Ile287Asn (I287N)].

Publications

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Vidal-Donet JM, Cárcel-Trullols J, Casanova B, Aguado C, Knecht E, Alterations in ROS Activity and Lysosomal pH Account for Distinct Patterns of Macroautophagy in LINCL and JNCL Fibroblasts PloS one8:e55526 2012
PubMed ID: 23408996
 
Jennings JJ, Zhu JH, Rbaibi Y, Luo X, Chu CT, Kiselyov K, Mitochondrial aberrations in mucolipidosis Type IV The Journal of biological chemistry281:39041-50 2006
PubMed ID: 17056595
 
Soyombo AA, Tjon-Kon-Sang S, Rbaibi Y, Bashllari E, Bisceglia J, Muallem S, Kiselyov K, TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity The Journal of biological chemistry281:7294-301 2005
PubMed ID: 16361256
 
Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P, Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am J Hum Genet64(6):1511-23 1999
PubMed ID: 10330339
 
Sohar I, Sleat DE, Jadot M, Lobel P, Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models. J Neurochem73:700-11 1999
PubMed ID: 10428067

External Links

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dbSNP dbSNP ID: 11262
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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Passage Frozen 14
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 10% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
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International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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