Description:
FARBER LIPOGRANULOMATOSIS
N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Ethnicity
|
ITALIAN
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| ceramidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.5.1.23 |
| |
| Gene |
ASAH |
| Chromosomal Location |
8p22 |
| Allelic Variant 1 |
613468.0002; FARBER LIPOGRANULOMATOSIS |
| Identified Mutation |
GLU138VAL; In a patient with Farber lipogranulomatosis Li et al. (1999) demonstrated a glu138-to-val (E138V) mutation in the ASAH gene as a result of a 413A-T transversion. |
| |
| Gene |
ASAH |
| Chromosomal Location |
8p22 |
| Allelic Variant 2 |
613468.0002; FARBER LIPOGRANULOMATOSIS |
| Identified Mutation |
GLU138VAL; In a patient with Farber lipogranulomatosis Li et al. (1999) demonstrated a glu138-to-val (E138V) mutation in the ASAH gene as a result of a 413A-T transversion. |
| Remarks |
Clinically affected; mild disease (Farber disease subtype 3); late onset of disease at 20 months; died at age 30; a sister with similar clinical history died at age 18; deficient acid ceramidase; donor subject is homozygous for an A>T transversion at nucleotide 413 in exon 6 of the ASAH gene resulting in the substitution of valine for glutamic acid at codon 138 [Glu138Val (E138V)] |
| Alves MQ, Le Trionnaire E, Ribeiro I, Carpentier S, Harzer K, Levade T, Ribeiro MG, Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene Molecular genetics and metabolism: 2013 |
| PubMed ID: 23707712 |
| |
| 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 |
| |
| Zhang Z, Mandal AK, Mital A, Popescu N, Zimonjic D, Moser A, Moser H, Mukherjee AB, Human acid ceramidase gene: novel mutations in Farber disease. Mol Genet Metab70(4):301-9 2000 |
| PubMed ID: 10993717 |
| Passage Frozen |
8 |
| Split Ratio |
1:4 |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|