GM20016
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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Other
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Ethnicity
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TURKISH
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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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| Gene |
ASAH |
| Chromosomal Location |
8p22 |
| Allelic Variant 1 |
613468.0004; FARBER LIPOGRANULOMATOSIS |
| Identified Mutation |
ASN320ASP; In a patient with Farber lipogranulomatosis Bar et al. (2001) described an asn320-to-asp (N320D) substitution caused by a 958A-G change in the beta subunit of acid ceramidase in homozygous state. |
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| Gene |
ASAH |
| Chromosomal Location |
8p22 |
| Allelic Variant 2 |
613468.0004; FARBER LIPOGRANULOMATOSIS |
| Identified Mutation |
ASN320ASP; In a patient with Farber lipogranulomatosis Bar et al. (2001) described an asn320-to-asp (N320D) substitution caused by a 958A-G change in the beta subunit of acid ceramidase in homozygous state. |
| Remarks |
Clinically affected; combined Farber and Sandhoff disease (Farber disease subtype 6); consanguineous parents; died at 2.5 years; donor subject is homozygous for a A>G transition at nucleotide 958 in exon 12 of the ASAH gene [958A>G] resulting in a substitution of aspartic acid for asparagine at codon 320 [Asn320Asp (N320D)] in the AC beta subunit. |
| 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 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
Sodium Pyruvate 100mM |
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