GM04673
LCL from B-Lymphocyte
Description:
ADRENOLEUKODYSTROPHY; ALD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid Metabolism |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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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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| 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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| Remarks |
Elevated C26 and C22 long-chain fatty acid in cultured skin fibroblasts; adrenal insufficiency; progressive white matter disease; mental retardation; poor visual abilities; progressively deteriorating intellectual and motor function; loss of skills; positive family history; see GM04904B Fibroblast |
| Monternier PA, Singh J, Parasar P, Theurey P, DeWitt S, Jacques V, Klett E, Kaur N, Nagaraja TN, Moller DE, Hallakou-Bozec S, Therapeutic potential of deuterium-stabilized (R)-pioglitazone-PXL065-for X-linked adrenoleukodystrophy Journal of inherited metabolic disease: 2022 |
| PubMed ID: 35510808 |
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| Vincent A, Heitz D, Petit C, Kretz C, Oberle I, Mandel JL, Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature349:624-6 1991 |
| PubMed ID: 1672039 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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