GM05081
Fibroblast from Skin, Unspecified
Description:
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
| |
| Remarks |
Clinically affected with Becker's muscular dystrophy; diagnosed at age 9; progressive weakness; calf hypertrophy; began walking at 13 months but did not start crawling until after walking began; calf and thigh cramping when running at age 7; difficulty climbing stairs and frequent falls at age 8; by age 9 there was a positive Gower's maneuver, gluteal gait, hypotonia of the four extremities, depressed deep tendon reflexes, marked weakness in hip flexors, weakness to ankle dorsiflexion, hip adduction, hip abduction and flexion, weakness to neck flexion, shoulder adduction and abduction, atrophy of anterior hip groups, moderate lumbar lordosis, mild contractures of the ankles, upper nystagmus; muscle testing at age 9: neck flexors 4/5, neck extensors 5/5, deltoids 4/5, pectorals 4/5, biceps 5-/5, triceps 5/5, wrist extensors 5/5, psoas 4+/5, quadriceps 5-/5, hamstrings 5/5, tibialis anterior 5-/5, gastrocnemius 5/5; by age 11 there was marked weakness in the lower extremity proximal muscles and mild weakness in the upper extremity proximal muscles; son of GM05087/88; elevated CPK; muscle biopsy confirmed myopathy of the DMD type with very mild involvement suggestive of the Becker variant; donor subject does not have a deletion in the dystrophin gene as determined by multiplex PCR; same donor as GM05082 (lymphocyte). |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|