GM10062
LCL from B-Lymphocyte
Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
Muscular Dystrophies |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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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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Sample Source
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LCL from B-Lymphocyte
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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ISCN
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46,X,t(X;21)(Xqter>Xp21::21p12>21pter; 21qter>21p12::Xp21>Xpter)
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
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| Cytogenetics |
Chromosome 21: TRANSLOCATION Breakpoint 21p12 t(X;21)21p12 |
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Chromosome X: TRANSLOCATION Breakpoint Xp21 t(X;21)Xp21 |
| Remarks |
Clinically affected female; X/autosome chromosome translocation; normal X chromosome replicates early in 6% of cells; negative family history; diagnosed at age 8; frequent falls and difficulty walking stairs at age 2; calf hypertrophy since age 5; waddling gait; muscle weakness in upper and lower extremities; neck weakness; positive Gower's maneuver; absent reflexes; bilateral posterior leg muscle contractures; less severe than classical DMD at age 20 and still ambulatory; EKG abnormal showing a marked anterior shift of QRS forces; EMG characteristic of myopathic disease; muscle biopsy showed marked variation in fiber size, focal areas of necrotic fibers undergoing phagocytosis, and many rounded fibers; elevated lactate dehydrogenase and aldolases; elevated CPK of 2,110; no dystrophin gene deletion or duplication detectable by PCR. |
| Bodrug SE, Ray PN, Gonzalez IL, Schmickel RD, Sylvester JE, Worton RG, Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy. Science237:1620-4 1987 |
| PubMed ID: 3629260 |
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| Verellen-Dumoulin C, Freund M, De Meyer R, Laterre C, Frederic J, Thompson MW, Markovic VD, Worton RG, Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum Genet67:115-9 1984 |
| PubMed ID: 6745920 |
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| Worton RG, Duff C, Sylvester JE, Schmickel RD, Willard HF, Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes. Science224:1447-9 1984 |
| PubMed ID: 6729462 |
| dbSNP |
dbSNP ID: 11326 |
| NCBI GTR |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| OMIM |
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| Omim Description |
APO-DYSTROPHIN 1, INCLUDED |
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BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED |
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CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED |
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MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
- |
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