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GM05752 Fibroblast

Description:

FARBER LIPOGRANULOMATOSIS

Affected:

Yes

Sex:

Female

Age:

1 DA (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
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Hepatosplenomegaly; nodules on hands and feet; pulmonary infiltrates; anemia; hoarse cry; adenopathy; elevated liver ceramide level; undetectable acid ceramidase activity in leukocytes and fibroblasts; similarly affected bro; see GM05748 Lymph

Characterizations

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PDL at Freeze 3.1
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; 0% activity.
 

Phenotypic Data

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Remarks Hepatosplenomegaly; nodules on hands and feet; pulmonary infiltrates; anemia; hoarse cry; adenopathy; elevated liver ceramide level; undetectable acid ceramidase activity in leukocytes and fibroblasts; similarly affected bro; see GM05748 Lymph

Publications

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Chen Y1,2, Jian J1, Hettinghouse A1, Zhao X3, Setchell KDR3, Sun Y3, Liu CJ4,5, Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease J Mol Med96:1359-1373 2018
PubMed ID: 30341570
 
Antonarakis, Farbers lipogranulomatosis: Variability of expression and clinical overlap with histiocytosis. Pediatr Res17:206A (1983):1359-1373 1983
PubMed ID: 30341570

External Links

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dbSNP dbSNP ID: 19969
Gene Cards ASAH
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
OMIM 228000 FARBER LIPOGRANULOMATOSIS; FRBRL
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 1:3
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
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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