Description:
HURLER SYNDROME
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Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
|
Cell Type
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Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
2
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
6.35 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically unaffected mother of affected child GM00798 (fibroblast) and GM26656 (stem cell); child is homozygous for a TGG>TAG change at nucleotide 1293 in exon 9 of the IDUA gene [Trp402Ter (W402X)]; GM00798 (fibroblast) at passage 3 when entered repository; unaffected father of affected child is GM00800 (fibroblast). |
| Tuyaa-Boustugue P, Jantzen I, Zhang H, Young SP, Broqua P, Tallandier M, Entchev E, Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models Molecular genetics and metabolism reports37:101011 2023 |
| PubMed ID: 38053941 |
| |
| Wang J, Zhang Y, Mendonca CA, Yukselen O, Muneeruddin K, Ren L, Liang J, Zhou C, Xie J, Li J, Jiang Z, Kucukural A, Shaffer SA, Gao G, Wang D, AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice Nature604:343-348 2021 |
| PubMed ID: 35322228 |
| Split Ratio |
1:2 |
| 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 |
- |
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