Description:
MUCOPOLYSACCHARIDOSIS TYPE IVA
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
4.35 |
| Passage Frozen |
4 |
| |
| 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. |
| |
| Remarks |
Clinically atypical; 3% of normal N-acetylgalactosamine 6-sulfate sulfatase activity; normal B-galactosidase and B-glucuronidase activity |
| Vargas-López V, Prada LF, Alméciga-Díaz CJ, Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA Scientific reports14:3961 2023 |
| PubMed ID: 38368436 |
| |
| 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 Reports12:3961 2022 |
| PubMed ID: 36057729 |
| |
| 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 |
| |
| 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 |
| |
| Pshezhetsky AV, Potier M, Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate. J Biol Chem271:28359-65 1996 |
| PubMed ID: 8910459 |
| |
| Ogawa T, Tomatsu S, Fukuda S, Yamagishi A, Rezvi GM, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Oru T, Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene. Hum Mol Genet4:341-9 1995 |
| PubMed ID: 7795586 |
| Passage Frozen |
4 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|
|