NA00090
DNA from Fibroblast
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
dbGaP |
| Class |
Disorders of Amino Acid Metabolism |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Lung
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Cell Type
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Fibroblast
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Tissue Type
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Lung
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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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Race
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White
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Family Member
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1
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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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| Remarks |
Lung fibroblasts; positive family history; increased intracellular cystine in fibroblasts; same patient as GM00304 |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Vitvitsky, V., Witcher, M., Banerjee, R., and Thoene, J., The redox status of cystinotic fibroblasts Mol Genet Metabol99(2010):384-388 2010 |
| PubMed ID: 20061170 |
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| Pisoni RL, Park GY, Velilla VQ, Thoene JG, Detection and characterization of a transport system mediating cysteamine entry into human fibroblast lysosomes. Specificity for aminoethylthiol and aminoethylsulfide derivatives. J Biol Chem270:1179-84 1995 |
| PubMed ID: 7836377 |
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| Pisoni RL, Thoene JG, Christensen HN, Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. Role in therapeutic cystine removal? J Biol Chem260:4791-8 1985 |
| PubMed ID: 3921538 |
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| Thoene JG, Lemons RM, Cystine accumulation in cystinotic fibroblasts from free and protein- linked cystine but not cysteine. Biochem J208:823-30 1982 |
| PubMed ID: 6762213 |
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| Thoene JG, Lemons R, Cystine depletion of cystinotic tissues by phosphocysteamine (WR638). J Pediatr96:1043-4 1980 |
| PubMed ID: 7373465 |
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| Schneider JA, Verroust FM, Kroll WA, Garvin AJ, Horger EO 3d, Wong VG, Spear GS, Jacobson C, Pellett OL, Becker FL, Prenatal diagnosis of cystinosis. N Engl J Med290:878-82 1974 |
| PubMed ID: 4816962 |
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