Description:
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
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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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3
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Relation to Proband
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father
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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 |
11 |
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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 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 |
Clinically unaffected father of two affected children, GM00378 and GM00379; heterozygote level of 1/2 cystine in white cells; results from targeted next generation sequencing using human genome version hg19 and confirmation by Sanger sequencing indicate that allele 2 has a G>A transition at nucleotide 753 in exon 7 of the CTNS gene [753G>A] resulting in a substitution of a termination codon for tryptophan at codon 138 [Trp138Ter (W138X)] or p.W138*/c.414G>A, Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66. |
| 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 Nature: 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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| 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 |
11 |
| 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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