Description:
CYSTINOSIS, NEPHROPATHIC; 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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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 |
2 |
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| Gene |
CTNS |
| Chromosomal Location |
17p13 |
| Allelic Variant 1 |
PRO48LEUfs*7; CYSTINOSIS, NEPHROPATHIC |
| Identified Mutation |
c.225+5G>A |
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| 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. |
| 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. |
| Zykovich A, Kinkade R, Royal G, Zankel T, Molecular genetics and metabolism reports5:63-66 2015 |
| PubMed ID: 28649545 |
| 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 |
- |
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