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GM20015 Fibroblast from Skin, Unspecified

Description:

FARBER LIPOGRANULOMATOSIS
N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1

Affected:

Yes

Sex:

Male

Age:

No Data

  • 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
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Unspecified
Race Other
Ethnicity TUNISIAN
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; severe (classical) subtype; consanguineous parents; died at age 2; donor subject is homozygous for a A>G transition at nucleotide 107 in exon 2 of the ASAH gene [107A>G] resulting in a substitution of cysteine for tyrosine at codon 36 [Tyr36Cys(Y36C)] in the alpha subunit. Same donor as GM28600 iPSC.

Characterizations

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PDL at Freeze 3.94
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
Gene ASAH
Chromosomal Location 8p22
Allelic Variant 1 613468.0003; FARBER LIPOGRANULOMATOSIS
Identified Mutation TYR36CYS; In a male offspring of consanguineous Tunisian parents with the severe (classic) subtype of Farber lipogranulomatosis (Souillet et al., 1989), Bar et al. (2001) found a tyr36-to-cys (Y36C) mutation of the ASAH gene due to a 107A-G transition. The amino acid substitution was located in the alpha subunit.
 
Gene ASAH
Chromosomal Location 8p22
Allelic Variant 2 613468.0003; FARBER LIPOGRANULOMATOSIS
Identified Mutation TYR36CYS; In a male offspring of consanguineous Tunisian parents with the severe (classic) subtype of Farber lipogranulomatosis (Souillet et al., 1989), Bar et al. (2001) found a tyr36-to-cys (Y36C) mutation of the ASAH gene due to a 107A-G transition. The amino acid substitution was located in the alpha subunit.

Phenotypic Data

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Remarks Clinically affected; severe (classical) subtype; consanguineous parents; died at age 2; donor subject is homozygous for a A>G transition at nucleotide 107 in exon 2 of the ASAH gene [107A>G] resulting in a substitution of cysteine for tyrosine at codon 36 [Tyr36Cys(Y36C)] in the alpha subunit. Same donor as GM28600 iPSC.

Publications

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Brooks BM, Yeh CD, Beers J, Liu C, Cheng YS, Gorshkov K, Zou J, Zheng W, Chen CZ, Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease carrying a homozygous p Y36C (c 107 A>G) mutation in ASAH1 Stem cell research53:102387 2021
PubMed ID: 34088014
 
Xu M, Liu K, Swaroop M, Sun W, Dehdashti SJ, McKew JC, Zheng W, A phenotypic compound screening assay for lysosomal storage diseases Journal of biomolecular screening19:168-75 2013
PubMed ID: 23983233
 
Xu M1, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W., δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem287(47):39349-60 2012
PubMed ID: 23035117
 
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

External Links

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dbSNP dbSNP ID: 16411
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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Split Ratio 1:2
Temperature 37 C
Percent CO2 10%
Percent O2 AMBIENT
Medium Dulbecco Modified Eagles Medium (high glucose) 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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