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GM16485 Fibroblast from Skin, Unspecified

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
Class Disorders of the Nervous System
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Unspecified
Race Not Reported
Ethnicity Hispanic/Latino
Family Member 1
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks CABM011; clinically affected; seizures at 3 years of age, vision deterioration and cognitive dysfunction at 4 years of age; motor coordination dysfunction; CLN2 protease deficient; donor subject is a compound heterozygote: one allele carries a C-to-T transition at nucleotide g.3084 (c.379C>T) which converts the arg-127 codon (CGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 4 of the CLN2 (TPP1) gene [ARG127TER (R127X)] and a second allele carries a C-to-T transition at nucleotide g.3670 (c.622C>T) which converts the arg-208 codon (CGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 6 of the CLN2 (TPP1) gene [ARG208TER (R208X)]; same subject as GM27465 (iPSC).

Characterizations

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PDL at Freeze 5.42
Passage Frozen 6
 
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 R127X; CEROID LIPOFUSCINOSIS, NEURONAL 2
Identified Mutation ARG127TER
 
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 CABM011; clinically affected; seizures at 3 years of age, vision deterioration and cognitive dysfunction at 4 years of age; motor coordination dysfunction; CLN2 protease deficient; donor subject is a compound heterozygote: one allele carries a C-to-T transition at nucleotide g.3084 (c.379C>T) which converts the arg-127 codon (CGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 4 of the CLN2 (TPP1) gene [ARG127TER (R127X)] and a second allele carries a C-to-T transition at nucleotide g.3670 (c.622C>T) which converts the arg-208 codon (CGA) to a stop codon (TGA), resulting in a nonsense mutation in exon 6 of the CLN2 (TPP1) gene [ARG208TER (R208X)]; same subject as GM27465 (iPSC).

Publications

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Baradaran-Heravi A, Balgi AD, Hosseini-Farahabadi S, Choi K, Has C, Roberge M, Effect of small molecule eRF3 degraders on premature termination codon readthrough Nucleic acids research49:3692-3708 2021
PubMed ID: 33764477
 
Sima N, Li R, Huang W, Xu M, Beers J, Zou J, Titus S, Ottinger EA, Marugan JJ, Xie X, Zheng W, Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses Orphanet journal of rare diseases13:54 2017
PubMed ID: 29631617
 
Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W, A phenotypic compound screening assay for lysosomal storage diseases Journal of biomolecular screening19:168-75 2013
PubMed ID: 23983233
 
Xu M1, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W., δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem287(47):39349-60 2012
PubMed ID: 23035117
 
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

External Links

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dbSNP dbSNP ID: 21566
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 6
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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