Description:
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
|
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
|
|
Family Member
|
4
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
15 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| 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 |
| Remarks |
Clinically unaffected mother 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 1 has a splice site mutation at the +2 position of exon 11 [IVS11+2 T>C] or c.970+2T>C, Zykovich et al. Molecular Genetics and Metabolism Reports 5 (2015) 63-66.9 |
| Zykovich A, Kinkade R, Royal G, Zankel T, Molecular genetics and metabolism reports5:63-66 2015 |
| PubMed ID: 28649545 |
| |
| Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT, Mutations of CTNS causing intermediate cystinosis. Mol Genet Metab67(4):283-93 1999 |
| PubMed ID: 10444339 |
| |
| 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 |
15 |
| 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 |
- |
|
|