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Overview
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Collection
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Inherited Disorders |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Sample Description |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; TYPE UNKNOWN (FSHD) |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Species
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Homo sapiens
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Common Name
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Human
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Sex
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Female
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Family
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1948
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Family Member
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4
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Relation to Proband
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sister
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Clinically Affected
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No
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Confirmation
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Clinical summary/Case history
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Remarks
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| Catalog ID |
GM16352 |
| Product |
Cell Culture |
| Pricing |
Commercial Pricing: $85.00 Academic and not-for-profit pricing: $85.00 |
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How to Order
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Online Ordering Assurance Form (Must have current form on file) Statement of Research Intent Form (Information will be entered electronically when order is placed. DO NOT fax form to Coriell Customer Service)
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Characterizations
| Sample Description |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; TYPE UNKNOWN (FSHD) |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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Phenotypic Data
| Remark |
Clinically unaffected sister of GM16348; no signs of muscle weakness |
Culture Protocols
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
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