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GM00906 Fibroblast

Description:

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

Affected:

No Data

Sex:

Male

Age:

32 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Amino Acid Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 3
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically unaffected father of two affected children, GM00378 and GM00379; heterozygote level of 1/2 cystine in white cells; results from targeted next generation sequencing using human genome version hg19 and confirmation by Sanger sequencing indicate that allele 2 has a G>A transition at nucleotide 753 in exon 7 of the CTNS gene [753G>A] resulting in a substitution of a termination codon for tryptophan at codon 138 [Trp138Ter (W138X)] or p.W138*/c.414G>A, Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66.

Characterizations

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Passage Frozen 11
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Gene CTNS
Chromosomal Location 17p13
Allelic Variant 2 606272.0003; CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
Identified Mutation TRP138TER, 414G>A; One family from Northern Ireland and one from Eire were found by Town et al. (1998) to have the same mutation as the basis of nephropathic cystinosis (219800): a TGG-to-TGA transition at nucleotide 753 resulting in a trp138-to-ter (W138X) nonsense mutation.

Phenotypic Data

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Remarks Clinically unaffected father of two affected children, GM00378 and GM00379; heterozygote level of 1/2 cystine in white cells; results from targeted next generation sequencing using human genome version hg19 and confirmation by Sanger sequencing indicate that allele 2 has a G>A transition at nucleotide 753 in exon 7 of the CTNS gene [753G>A] resulting in a substitution of a termination codon for tryptophan at codon 138 [Trp138Ter (W138X)] or p.W138*/c.414G>A, Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66.

Publications

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Adelmann CH, Traunbauer AK, Chen B, Condon KJ, Chan SH, Kunchok T, Lewis CA, Sabatini DM, MFSD12 mediates the import of cysteine into melanosomes and lysosomes Nature: 2019
PubMed ID: 33208952
 
Zykovich A, Kinkade R, Royal G, Zankel T, MFSD12 mediates the import of cysteine into melanosomes and lysosomes Molecular genetics and metabolism reports5:63-66 2015
PubMed ID: 28649545
 
Langman CB, Moore ES, Thoene JG, Schneider JA, Renal failure in a sibship with late-onset cystinosis. J Pediatr107:755-6 1985
PubMed ID: 4056976

External Links

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dbSNP dbSNP ID: 13719
NCBI GTR 219900 CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
OMIM 219900 CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
Omim Description CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

Images

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View pedigree 

Culture Protocols

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Passage Frozen 11
Split Ratio 1:3
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 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
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$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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