GM20015
Fibroblast from Skin, Unspecified
Description:
FARBER LIPOGRANULOMATOSIS
N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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Other
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Ethnicity
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TUNISIAN
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
3.94 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| 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. |
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| 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. |
| 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. |
| 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 |
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| 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 |
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| 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 |
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| 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 |
| 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 |
- |
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