NA00379
DNA from Fibroblast
Description:
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
CYSTINOSIN; CTNS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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2
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Relation to Proband
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brother
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
CTNS |
| Chromosomal Location |
17p13 |
| Allelic Variant 1 |
exon 11 skipped; CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
| Identified Mutation |
IVS11+2,T>C |
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| 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. |
| Remarks |
Conjunctiva and cornea contain typical cystinotic crystals; elevated white cell 1/2 cystine concentration; normal renal function at age 10, but by age 13 developed renal glomerular insufficiency; similarly affected brother; results from next generation sequencing using human genome version hg19 confirmed by Sanger sequencing indicated that donor subject has compound heterozygous mutations in the CTNS gene: allele 1 has a splice site mutation at the +2 position of exon 11 [IVS11+2 T>C] or c.970+2T>C resulting in the skipping of exon 11 (inherited from mother, GM00907) and allele 2 has a G>A transition at nucleotide 753 in exon 7 [753G>A] resulting in a substitution of a termination codon for tryptophan at codon 138 [Trp138Ter (W138X)] or p.W138*/c.414G>A (inherited from father, GM00906), Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66. |
| 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 |
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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 Nature181:117650 2019 |
| PubMed ID: 33208952 |
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| 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 |
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| Park MA, Thoene JG, Potential role of apoptosis in development of the cystinotic phenotype Pediatric nephrology (Berlin, Germany)20:441-6 2004 |
| PubMed ID: 15622500 |
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| Helip-Wooley A, Park MA, Lemons RM, Thoene JG, Expression of CTNS alleles: subcellular localization and aminoglycoside
correction in vitro. Mol Genet Metab75(2):128-33 2002 |
| PubMed ID: 11855931 |
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| Park M, Helip-Wooley A, Thoene J, Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and
renal tubular epithelial cells. J Am Soc Nephrol13(12):2878-87 2002 |
| PubMed ID: 12444206 |
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| 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 |
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