Description:
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
| Class |
Congenital Muscle Diseases |
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Cell Type
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Fibroblast
|
|
Transformant
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Untransformed
|
|
Race
|
White
|
|
Ethnicity
|
Hispanic/Latino
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Ethnicity
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Mexican, German, Irish
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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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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|
Remarks
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|
| PDL at Freeze |
2.81 |
| Passage Frozen |
1 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; achieved and maintains the following motor functions: held head up without assistance and sat without assistance; CMD confirmed by muscle biopsy; normal brain MRI; CPK 20; family history (maternal uncle). |
| Cumulative PDL at Freeze |
2.81 |
| Passage Frozen |
1 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| 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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