Description:
CYSTINOSIS, NEPHROPATHIC; CTNS
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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Tissue Type
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Skin
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Transformant
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Untransformed
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| 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 |
606272.0004; CYSTINOSIS, NEPHROPATHIC |
| Identified Mutation |
DEL357GACT or 4-BP DEL, 18GACT; In 4 families from 3 different continents, Town et al. (1998) found that nephropathic cystinosis (219800) was associated with deletion of 4 nucleotides, GACT, at nucleotide 357 of the CTNS gene. This resulted in frameshift and a premature termination. The 4 families did not share a common haplotype, indicating a recurrent mutation. Macias-Vidal et al. (2009) noted that based on numbering from the ATG initiation codon the deletion occurs at nucleotide 18. |
| |
| Gene |
CTNS |
| Chromosomal Location |
17p13 |
| Allelic Variant 2 |
606272.0004; CYSTINOSIS, NEPHROPATHIC |
| Identified Mutation |
DEL357GACT or 4-BP DEL, 18GACT; In 4 families from 3 different continents, Town et al. (1998) found that nephropathic cystinosis (219800) was associated with deletion of 4 nucleotides, GACT, at nucleotide 357 of the CTNS gene. This resulted in frameshift and a premature termination. The 4 families did not share a common haplotype, indicating a recurrent mutation. Macias-Vidal et al. (2009) noted that based on numbering from the ATG initiation codon the deletion occurs at nucleotide 18. |
| Remarks |
Clinically affected; photophobia; corneal crystals; renal tubular Fanconi syndrome; renal failure; mild delayed bone age; polyuria; polydipsia; proteinuria; hypokalemia; generalized aminoaciduria; elevated white blood cell cystine; donor subject is homozygous for a 4 bp deletion at nucleotide 357 of the CTNS gene (357delGACT) in codon 7 resulting in a frameshift and a premature termination; Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66 confirmed these mutations with targeted next generation sequencing using human genome version hg19 and Sanger sequencing. |
| Zykovich A, Kinkade R, Royal G, Zankel T, Molecular genetics and metabolism reports5:63-66 2015 |
| PubMed ID: 28649545 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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