GM20018
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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White
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Ethnicity
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BELGIAN
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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 |
7.38 |
| Passage Frozen |
2 |
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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 |
613468.0001; FARBER LIPOGRANULOMATOSIS |
| Identified Mutation |
THR222LYS; Koch et al. (1996) demonstrated that a patient with Farber lipogranulomatosis showed 3 nucleotide changes resulting in the amino acid changes met72 to val (M72V), ile92 to val (I92V), and thr222 to lys (T222K) in the acid ceramidase gene; T222K was homoallelic. The parents were consanguineous. |
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| Gene |
ASAH |
| Chromosomal Location |
8p22 |
| Allelic Variant 2 |
613468.0001; FARBER LIPOGRANULOMATOSIS |
| Identified Mutation |
THR222LYS; Koch et al. (1996) demonstrated that a patient with Farber lipogranulomatosis showed 3 nucleotide changes resulting in the amino acid changes met72 to val (M72V), ile92 to val (I92V), and thr222 to lys (T222K) in the acid ceramidase gene; T222K was homoallelic. The parents were consanguineous. |
| Remarks |
Clinically affected; joint lesions containing subcutaneous nodules; hoarseness; hepatosplenomegaly; trachael compression; died at 22 months; AC activity in cultured skin fibroblasts was 5% of normal levels; donor subject is homozygous for a C>A transversion at nucleotide 665 in exon 9 of the ASAH gene [665C>A] resulting in a subsitution of lysine for threonine at codon 222 [Thr222Lys(T222K)]. Donor subject is a compound heterozygote for two polymorphisms: one allele has a A>G transition at nucleotide 214 in exon 3 of the ASAH gene [214A>G] resulting in a substitution of valine for methionine at codon 72 [Met72Val(M72V)] and a second allele has a G>A transition at nucleotide 277 in exon 4 of the ASAH gene [277G>A] resulting in a substitution of isoleucine for valine at codon 93 [Val93Ile(V93I)]. |
| 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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| Koch J, Gartner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K, Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. J Biol Chem271(51):33110-5 1996 |
| PubMed ID: 8955159 |
| Passage Frozen |
2 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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