Description:
MUCOPOLYSACCHARIDOSIS TYPE VI
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Lysosomal Storage Diseases |
Class |
Disorders of Carbohydrate Metabolism |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
Black/African American
|
Family Member
|
3
|
Relation to Proband
|
father
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
5 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
|
Remarks |
Clinically unaffected father of affected child (GM03722-fibro, GM03723-lymph); family history reveals subject is related to spouse through their grandfather; unaffected daughter (sister of affected child: GM03726-fibro); unaffected spouse (GM03720-fibro, GM03721-lymph); See GM03725 Lymphoid (same donor). |
Passage Frozen |
5 |
Split Ratio |
1:2 |
Temperature |
37 C |
Percent CO2 |
5% |
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 |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|