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NA02316 DNA from Fibroblast

Description:

FARBER LIPOGRANULOMATOSIS

Affected:

No

Sex:

Male

Age:

37 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
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Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Lipid Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Family Member 2
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Irish descent; clinically unaffected father of GM02314

Characterizations

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Passage Frozen 3
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Irish descent; clinically unaffected father of GM02314

External Links

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dbSNP dbSNP ID: 17878
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
GEO GEO Accession No: GSM1257697
GEO Accession No: GSM1266972
GEO Accession No: GSM1267051
GEO Accession No: GSM1314047
GEO Accession No: GSM651150
GEO Accession No: GSM651151
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

Images

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View pedigree 
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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