Description:
BETHLEM MYOPATHY
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Muscular Dystrophies CMD Specific |
Class |
Congenital Muscle Diseases |
Cell Type
|
Fibroblast
|
Tissue Type
|
Muscle
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
European, Russian, German, Romanian
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
2.43 |
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Subject is clinically affected; CMD confirmed by muscle biopsy; negative Lamin A/C; Collagen VI polymorphism; no microcephaly or macrocephaly; achieved all of the following without assistance: held head up, turned in bed, sat, stood, walked, climbed stairs; still maintains holding head up and sitting; lost walking ability at age 11 after hamstring surgery. Bethlem myopathy phenotype. No mutations found in COL6A1-3. |
Cumulative PDL at Freeze |
2.43 |
Passage Frozen |
2 |
Split Ratio |
1:10 |
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 |
- |
|
|