NA20019
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from Fibroblast
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
ASAH |
| Chromosomal Location |
8p22 |
| Allelic Variant 1 |
D331N; FARBER LIPOGRANULOMATOSIS |
| Identified Mutation |
ASP331ASN |
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| Gene |
ASAH |
| Chromosomal Location |
8p22 |
| Allelic Variant 2 |
del128_152; FARBER LIPOGRANULOMATOSIS |
| Identified Mutation |
412G>T |
| Remarks |
Clinically affected; collected in Germany in a community of mixed ethnicity; mild disease (Farber disease subtype 3); donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 991 in exon 12 of the ASAH gene [991G>A] resulting in a substitution of asparagine for aspartic acid at codon 331 [Asp331Asn(D331N)] and a second allele has a G>T transversion at nucleotide 412 in exon 6 of the ASAH gene [412G>T] resulting in a deletion of amino acids 128 to 152 (exon 6) [del 128-152]. |
| 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 |
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