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GM00908 Fibroblast

Description:

CYSTINOSIS, NEPHROPATHIC; CTNS

Affected:

Yes

Sex:

Male

Age:

12 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 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Nephropathic cystinosis; fibroblasts show increased levels of intracellular cystine; esults from targeted next generation sequencing using human genome version hg19 and confirmation by Sanger sequencing indicate that donor subject is compound heterozygous for mutations in the CTNS gene, allele 1: p.L158P/c.473T>C (inherited from father GM00910), allele 2: 57 kb deletion - exons 1-10 (inherited from mother GM00909), Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66; patient has received a kidney transplant.

Characterizations

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Passage Frozen 8
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Gene CTNS
Chromosomal Location 17p13
Allelic Variant 1 L158P; CYSTINOSIS, NEPHROPATHIC
Identified Mutation LEU158PRO
 
Gene CTNS
Chromosomal Location 17p13
Allelic Variant 2 606272.0005; CYSTINOSIS, NEPHROPATHIC
Identified Mutation 57-KB DEL; This common mutation in nephropathic cystinosis (219800) was originally reported as a 65-kb deletion. Touchman et al. (2000) sequenced 200 kb surrounding the CTNS gene and found that the deletion is approximately 57 rather than 65 kb. The authors identified SHPK (605060), which they designated CARKL, within this deleted region. The findings indicated that the 57-kb deletion includes deletion of CARKL in addition to CTNS, which may account for phenotypic variability in patients. In a French/British report (Town et al., 1998), 23 (33%) of 70 patients with nephropathic cystinosis had a 65-kb deletion in the CTNS gene. Among American-based patients studied by Shotelersuk et al. (1998), 48 (44%) of 108 were homozygous for the 65-kb 'European' deletion. Of 96 alleles from these patients, 82 were assigned a nation of origin; 38 (46%) derived from Germany and 28 (34%) arose from the British Isles. Two apparently unrelated patients with homozygous deletions came from Iceland. In addition to the 48 patients homozygous for the 65-kb deletion, many of the patients may have a single copy of the deletion. An upstream deletion breakpoint needed to be determined before a PCR-based test of heterozygosity for the deletion could be developed. Gahl et al. (2002) stated that the 57-kb deletion is found in the homozygous state in approximately 50% of patients of northern European descent who have cystinosis. This founder mutation, which removes the first 10 exons of CTNS and eliminates expression of the protein, apparently occurred in Germany in approximately 500 A.D. (Shotelersuk et al., 1998) and spread by migration to other regions, including Iceland. Bendavid et al. (2004) described a FISH method permitting cytogenetic laboratories to test for the 57-kb deletion, which is found in approximately 60% of patients with cystinosis in the United States and northern Europe. Wamelink et al. (2008) found that cystinosis patients homozygous for the 57-kb deletion had increased urinary sedoheptulose and erythritol compared to patients with other CTNS mutations. Enzyme studies of cultured fibroblasts revealed an 80% reduction in sedoheptulose phosphorylating activity compared to cystinosis patients with other mutations and controls. The findings indicated that the CARKL gene encodes sedoheptulokinase, which functions in the pentose phosphate pathway. Compound Heterozygosity for the 57-kb Deletion In a 38-year-old woman who presented with photophobia at 38 years of age but had suffered chronic sensitivity to light (219750), Anikster et al. (2000) identified compound heterozygosity for the 57-kb deletion and a 928G-A transition, resulting in a glycine to arginine substitution at codon 197 (G197R; 606272.0011). Compound heterozygosity was also found in 2 additional patients from the same family with ocular cystinosis. In a Spanish patient with juvenile-onset nephropathic cystinosis (219900), Macias-Vidal et al. (2009) identified compound heterozygosity for a 416C-T transition in the CTNS gene, resulting in a ser139-to-phe (S139F; 606272.0018) substitution, and the 57-kb deletion.

Phenotypic Data

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Remarks Nephropathic cystinosis; fibroblasts show increased levels of intracellular cystine; esults from targeted next generation sequencing using human genome version hg19 and confirmation by Sanger sequencing indicate that donor subject is compound heterozygous for mutations in the CTNS gene, allele 1: p.L158P/c.473T>C (inherited from father GM00910), allele 2: 57 kb deletion - exons 1-10 (inherited from mother GM00909), Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66; patient has received a kidney transplant.

Publications

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Ortea I, Rodríguez-Martínez L, Carrera M, Fafián-Labora JA, Arufe MC, González-Barcia M, Fernández-Ferreiro A, Mateos J, ZenoSWATH DIA proteomics and clustering analysis of the effect of cysteamine at the cellular level in cystinotic fibroblasts Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie181:117650 2024
PubMed ID: 39504626
 
Zykovich A, Kinkade R, Royal G, Zankel T, ZenoSWATH DIA proteomics and clustering analysis of the effect of cysteamine at the cellular level in cystinotic fibroblasts Molecular genetics and metabolism reports5:63-66 2015
PubMed ID: 28649545

External Links

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dbSNP dbSNP ID: 22819
NCBI GTR 219800 CYSTINOSIS, NEPHROPATHIC; CTNS
OMIM 219800 CYSTINOSIS, NEPHROPATHIC; CTNS
Omim Description CYSTINOSIN, DEFECT INCYSTINOSIN, INCLUDED
  CYSTINOSIS, INFANTILE NEPHROPATHIC
  CYSTINOSIS, NEPHROPATHIC; CTNS
  LYSOSOMAL CYSTINE TRANSPORT PROTEIN, DEFECT OF

Images

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View pedigree 

Culture Protocols

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Passage Frozen 8
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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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