GM00304
Fibroblast from Skin, Unspecified
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 |
| Class |
Disorders of Amino Acid Metabolism |
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Biopsy Source
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Unspecified
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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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Fibroblast from Skin, Unspecified
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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 |
Skin fibroblasts; formerly GM00091; increased intracellular cystine in fibroblasts; same patient as GM00090A |
| 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 |
| Passage Frozen |
4 |
| 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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