NA01361
DNA from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE IVA
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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 Carbohydrate Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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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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Race
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White
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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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| Passage Frozen |
3 |
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| N-acetylgalactosamine-6-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.4; 3% activity. |
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| Remarks |
Variant; 3% of normal N-acetylgalactosamine 6-sulfate sulfatase activity, normal B-galactosidase and B-glucuronidase |
| Leal AF, Cifuentes J, Torres CE, Suárez D, Quezada V, Gómez SC, Cruz JC, Reyes LH, Espejo-Mojica AJ, Alméciga-Díaz CJ, Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles Scientific Reports12: 2022 |
| PubMed ID: 36057729 |
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| Puentes-Tellez MA, Sánchez OF, Rojas-Rodriguez F, Benincore-Flórez E, Barbosa H, Alméciga Díaz CJ, Evaluation of HIV-1 derived lentiviral vectors as transductors of Mucopolysaccharidosis type IV a fibroblasts Gene780:145527 2020 |
| PubMed ID: 33636292 |
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| Alméciga-Diaz CJ, Hidalgo OA, Olarte-Avellaneda S, Rodríguez-López A, Guzman E, Garzón R, Pimentel-Vera LN, Puentes-Tellez MA, Rojas-Rodriguez AF, Gorshkov K, Li R, Zheng W, Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA Journal of medicinal chemistry62:6175-6189 2019 |
| PubMed ID: 31188588 |
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| Li R, Baskfield A, Beers J, Zou J, Liu C, Alméciga-Díaz CJ, Zheng W, Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous pR61W and pWT405del mutations in the GALNS gene Stem cell research36:101408 2019 |
| PubMed ID: 30797135 |
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