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GM02066 Fibroblast

Description:

CYSTINOSIS, NEPHROPATHIC; CTNS

Affected:

Yes

Sex:

Female

Age:

1 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 Amino Acid Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Photophobia; cystine crystals in cornea and conjunctiva; white blood cells and fibroblasts show increased cystine concentrations; results 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.G197R/c.589G>A, allele 2: p.G339R/c.1015G>A, Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66.

Characterizations

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Passage Frozen 2
 
Gene CTNS
Chromosomal Location 17p13
Allelic Variant 1 PRO48LEUfs*7; CYSTINOSIS, NEPHROPATHIC
Identified Mutation c.225+5G>A
 
Gene CTNS
Chromosomal Location 17p13
Allelic Variant 2 606272.0015; CYSTINOSIS, NEPHROPATHIC
Identified Mutation c.1015G>A; In 4 children with nephropathic cystinosis (219800) in the Old Order Amish population in southwestern Ohio, Rupar et al. (2001) identified a G-to-A transition at nucleotide 1354. This transition resulted in a glycine-to-arginine substitution at residue 339 (G339R). It was found in homozygous form in affected children and in heterozygous form in an unaffected sib.

Phenotypic Data

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Remarks Photophobia; cystine crystals in cornea and conjunctiva; white blood cells and fibroblasts show increased cystine concentrations; results 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.G197R/c.589G>A, allele 2: p.G339R/c.1015G>A, Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66.

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: 16139
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

Culture Protocols

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Passage Frozen 2
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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