Description:
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
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Cell Type
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Fibroblast
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|
Transformant
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Untransformed
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|
Race
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White
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Relation to Proband
|
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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|
| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically affected; hypoglycemia; hepatic dysfunction; hyperbilirubinemia; ascites; numerous episodes of sepsis; marked deficiency of carnitine in muscle, mild deficiency in liver; similarly affected fraternal twin; sequencing of the exons and flanking intron segments of the SLC22A5 (also known as OCTN2) gene found no significant mutations.
|
| Passage Frozen |
7 |
| Split Ratio |
1:4 |
| 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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