GM20017
Fibroblast from Skin, Unspecified
Description:
FARBER LIPOGRANULOMATOSIS
N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1
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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 Lipid 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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Unknown
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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| PDL at Freeze |
6.97 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
ASAH |
| Chromosomal Location |
8p22 |
| Allelic Variant 1 |
del348_366; FARBER LIPOGRANULOMATOSIS |
| Identified Mutation |
IVS13+1G>T |
| Remarks |
Clinically affected; neurologic-progressive disease (Farber disease subtype 5); died at age 3; donor subject has one allele that has a G>T transversion of the first nucleotide in intron 13 of the ASAH gene [IVS13+1G>T] resulting in a deletion of amino acids 348 to 366 (exon 13) in the beta subunit [del 348-366] and a mutation in the second allele could not be identified. |
| Bar J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K, Molecular analysis of acid ceramidase deficiency in patients with Farber disease. Hum Mutat17(3):199-209 2001 |
| PubMed ID: 11241842 |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| Percent O2 |
AMBIENT |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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