GM24234
LCL from B-Lymphocyte
Description:
BETHLEM MYOPATHY
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
| Class |
Congenital Muscle Diseases |
|
Biopsy Source
|
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
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
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LCL from B-Lymphocyte
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Race
|
White
|
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Country of Origin
|
USA
|
|
Family History
|
N
|
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Relation to Proband
|
proband
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|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
COL6A3 |
| Chromosomal Location |
2q37 |
| Allelic Variant 1 |
D563G; BETHLEM MYOPATHY |
| Identified Mutation |
ASP563GLY |
| Remarks |
Clinically affected; symptom onset between the ages of 16 and 20; maximum motor functions ever achieved and current maximum motor functions: jump on one-foot and running; mutation in the Col6A3 gene; c.1688 A>G (p. Asp563Gly). |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
|