GM03725
LCL from B-Lymphocyte
Description:
MUCOPOLYSACCHARIDOSIS TYPE VI
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Lysosomal Storage Diseases |
Class |
Disorders of Carbohydrate Metabolism |
Alternate IDs |
GM17103 [MUCOPOLYSACCHARIDOSIS TYPE VI] |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
Black/African American
|
Ethnicity
|
AFRICAN-AMERICAN
|
Family Member
|
3
|
Relation to Proband
|
father
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
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 GM03724 Fibroblast (same donor). |
Sha MY, Walton ID, Norton SM, Taylor M, Yamanaka M, Natan MJ, Xu C, Drmanac S, Huang S, Borcherding A, Drmanac R, Penn SG, Multiplexed SNP genotyping using nanobarcode particle technology Analytical and bioanalytical chemistry384:658-66 2005 |
PubMed ID: 16421712 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
20% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
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