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
|
|
Passage Frozen |
3 |
|
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. |
|
Remark |
Variant; 3% of normal N-acetylgalactosamine 6-sulfate sulfatase activity, normal B-galactosidase and B-glucuronidase |
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 |
Passage Frozen |
3 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids |
Serum |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
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