NA17888
DNA from Fibroblast
Description:
CYSTINOSIS, ADULT NONNEPHROPATHIC
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 |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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 |
606272.0009; CYSTINOSIS, OCULAR NONNEPHROPATHIC |
| Identified Mutation |
IVS10AS,C>G,-3 |
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| Gene |
CTNS |
| Chromosomal Location |
17p13 |
| Allelic Variant 2 |
606272.0010; CYSTINOSIS, NEPHROPATHIC |
| Identified Mutation |
5-BP DEL, NT545; Shotelersuk et al. (1998) identified a 5-bp deletion starting at nucleotide 545 resulting in an I69R amino acid substitution and a stop codon at position 73 of the CTNS gene in a patient with classic cystinosis (219800). |
| Remarks |
Clinically affected; diagnosis at age 6; mild disease; mild photophobia; case #1 in Anikster et al Ped Res 47:17-23, 2000; donor subject is a compound heterozygote: allele one has a C>G transversion at the -3 position of the acceptor splice site of IVS10 (IVS10-3C>G) (IVS11-3C>G in RefSeq NM_004937) which results in an insertion of 182 bp between exons 10 and 11 of the CTNS gene and predicts a protein with 28 incorrect amino acids inserted terminating at residue 313; allele two has a 5 bp deletion at nucleotide 545 (545delTCCTT) in exon 5 (exon 6 in RefSeq NM_004937) resulting in a frameshift at codon 69 and a stop at codon 73 [Ile69ter (I69Xfs73)] |
| Zykovich A, Kinkade R, Royal G, Zankel T, Molecular genetics and metabolism reports5:63-66 2015 |
| PubMed ID: 28649545 |
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| Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA, Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Pediatr Res47(1):17-23 2000 |
| PubMed ID: 10625078 |
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