NA00107
DNA from Fibroblast
Description:
FABRY DISEASE
GALACTOSIDASE, ALPHA; GLA
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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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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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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DNA from Fibroblast
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 |
4.6 |
| Passage Frozen |
7 |
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| alpha-galactosidase |
According to the submitter (1973), biochemical test results for this subject showed 27% of normal enzyme activity. An assay run by a second investigator in 1981 showed 10-15% of normal enzyme activity. EC Number: 3.2.1.22; 27; 10-15% activity. |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
GLA |
| Chromosomal Location |
Xq22 |
| Allelic Variant 1 |
W162X; FABRY DISEASE |
| Identified Mutation |
TRP162TER |
| Remarks |
Two investigators independently analyzing levels of alpha-galactosidase via assays run with 4-methylumbelliferone derivatives of alpha-galactose have determined deficiency of the enzyme (1973: 27% of normal, 1981: 10-15% of normal); normal activities of beta-glucuronidase, acid beta-galactosidase, and alpha-mannosidase; classic phenotype; donor subject is hemizygous for a G>A change at nucleotide 485 in exon 3 of the GLA gene (c.485G>A), resulting in a stop codon [Trp162Ter (W162X)]; donor is also hemizygous for two SNPs: IVS4-16A>G (rs2071397) and IVS6-22C>T (rs2071228). |
| van Kuilenburg ABP, Hollak CEM, Travella A, Jacobs M, Gentilini LD, Leen R, der Vlugt KMMG, Stet FSB, Goorden SMI, van der Veen S, Criscuolo M, Papouchado M, Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation Drugs in R&D: 2023 |
| PubMed ID: 37083901 |
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| Kaneski CR, Hanover JA, Schueler Hoffman UH, Generation of an Molecular genetics and metabolism reports31:100871 2022 |
| PubMed ID: 35782611 |
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| Scotto Rosato A, Krogsaeter EK, Jaslan D, Abrahamian C, Montefusco S, Soldati C, Spix B, Pizzo MT, Grieco G, Böck J, Wyatt A, Wünkhaus D, Passon M, Stieglitz M, Keller M, Hermey G, Markmann S, Gruber-Schoffnegger D, Cotman S, Johannes L, Crusius D, Boehm U, Wahl-Schott C, Biel M, Bracher F, De Leonibus E, Polishchuk E, Medina DL, Paquet D, Grimm C, TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease EMBO molecular medicine14:e15377 2022 |
| PubMed ID: 35929194 |
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| Birket MJ, Raibaud S, Lettieri M, Adamson AD, Letang V, Cervello P, Redon N, Ret G, Viale S, Wang B, Biton B, Guillemot JC, Mikol V, Leonard JP, Hanley NA, Orsini C, Itier JM, A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology Stem cell reports14:e15377 2018 |
| PubMed ID: 31378672 |
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| Welford RWD1, Mühlemann A1, Garzotti M1, Rickert V2, Groenen PMA1, Morand O1, Üçeyler N2, Probst MR1., Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types Human Molecular Genetics14:e15377 2018 |
| PubMed ID: 29982630 |
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| Kawagoe S, Higuchi T, Otaka M, Shimada Y, Kobayashi H, Ida H, Ohashi T, Okano HJ, Nakanishi M, Eto Y., Morphological features of iPS cells generated from Fabry disease skin fibroblasts using Sendai virus vector (SeVdp). Mol Genet Metab.109 (4):386-9 2013 |
| PubMed ID: 23810832 |
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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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| Bach G, Rosenmann E, Karni A, Cohen T, Pseudodeficiency of alpha-galactosidase A Clinical genetics21:59-64 1982 |
| PubMed ID: 6279339 |
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| Shows TB, Mueller OT, Honey NK, Wright CE, Miller AL, Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants. Am J Med Genet12:343-53 1982 |
| PubMed ID: 6287841 |
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