Description:
ADRENOLEUKODYSTROPHY; ALD
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Biochemical characterization after cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
5.12 |
| Passage Frozen |
10 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Elevated C26:C22 fatty acid in fibroblasts; adrenal insufficiency; progressive white matter disease; progressively deteriorating intellectual function; one 2nd and two 3rd maternal cousins have ALD; see GM04673B Lymphoid |
| Kaur N, Singh J, Generation and Characterization of Human iPSC-Derived Astrocytes with Potential for Modeling X-Linked Adrenoleukodystrophy Phenotypes International journal of molecular sciences26: 2025 |
| PubMed ID: 40004040 |
| |
| Terluk MR, Tieu J, Sahasrabudhe SA, Moser A, Watkins PA, Raymond GV, Kartha RV, Nervonic Acid Attenuates Accumulation of Very Long-Chain Fatty Acids and is a Potential Therapy for Adrenoleukodystrophy Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics19:1007-1017 2022 |
| PubMed ID: 35378685 |
| |
| Pahan K, Khan M, Singh I, Therapy for X-adrenoleukodystrophy: normalization of very long chain fatty acids and inhibition of induction of cytokines by cAMP. J Lipid Res39(5):1091-100 1998 |
| PubMed ID: 9610777 |
| |
| Wilson R, Tocher DR, Sargent JR, Effects of exogenous monounsaturated fatty acids on fatty acid metabolism in cultured skin fibroblasts from adrenoleukodystrophy patients. J Neurol Sci109:207-14 1992 |
| PubMed ID: 1634904 |
| Gene Cards |
ALD |
| NCBI GTR |
300100 ADRENOLEUKODYSTROPHY; ALD |
| OMIM |
300100 ADRENOLEUKODYSTROPHY; ALD |
| Omim Description |
ADDISON DISEASE AND CEREBRAL SCLEROSIS |
| |
ADRENOLEUKODYSTROPHY; ALD |
| |
ADRENOMYELONEUROPATHY; AMN |
| |
BRONZE SCHILDER'S DISEASE |
| |
MELANODERMIC LEUKODYSTROPHYADRENOLEUKODYSTROPHY PROTEIN, INCLUDED; ALDP, INCLUDED |
| |
SIEMERLING-CREUTZFELDT DISEASE |
| Passage Frozen |
10 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
|