Description:
CYSTINOSIS, NEPHROPATHIC; CTNS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Amino Acid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| Gene |
CTNS |
| Chromosomal Location |
17p13 |
| Allelic Variant 1 |
PRO48LEUfs*7; CYSTINOSIS, NEPHROPATHIC |
| Identified Mutation |
c.225+5G>A |
| |
| 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. |
| 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 |
| |
| 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 |
| 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 |
- |
|