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 |
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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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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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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 |
12 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase 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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| 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 |
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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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| 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 |
| Passage Frozen |
12 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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