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GM02315 Fibroblast

Description:

FARBER LIPOGRANULOMATOSIS
N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1

Affected:

Yes

Sex:

Female

Age:

7 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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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 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)]

Characterizations

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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.

Phenotypic Data

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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)]

Publications

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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

External Links

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dbSNP dbSNP ID: 16318
Gene Cards ASAH
ASAH1
Gene Ontology GO:0005764 lysosome
GO:0006631 fatty acid metabolism
GO:0006672 ceramide metabolism
GO:0016787 hydrolase activity
GO:0017040 ceramidase activity
NCBI Gene Gene ID:427
NCBI GTR 228000 FARBER LIPOGRANULOMATOSIS; FRBRL
613468 N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1
OMIM 228000 FARBER LIPOGRANULOMATOSIS; FRBRL
613468 N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1
Omim Description AC DEFICIENCY
  ACID CERAMIDASE DEFICIENCY
  CERAMIDASE DEFICIENCY
  FARBER LIPOGRANULOMATOSIS
  N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCYN-ACYLSPHINGOSINE AMIDOHYDROLASE, INCLUDED; ASAH, INCLUDED

Culture Protocols

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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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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