GM23159
LCL from B-Lymphocyte
Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies
GeT-RM Samples |
| Class |
Congenital Muscle Diseases |
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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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Race
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White
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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 LINE assay |
| |
| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; MUSCULAR DYSTROPHY, DUCHENNE TYPE |
| Identified Mutation |
EX17DUP |
| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
34 YR |
| Sex |
Male |
| Racial Category |
White |
| |
| Data Elements |
| Clinical Element Type: Duchenne Muscular Dystrophy |
| (Baseline) |
| Diagnosis |
| Age at Diagnosis (in years) |
6 |
| Relative with similar muscle disease |
No |
| Skeletal/Mobility |
| Scoliosis |
No |
| Broken bones due to DMD |
Yes |
| If yes, broke: |
ARMS AND LEGS |
| Delays in motor development was initially recognized |
Unknown |
| Toe Walking initially recognized |
Unknown |
| Enlarged calves initially recognized |
Unknown |
| Walking |
No |
| Mobility device ie stroller, wheelchair |
Yes |
| If yes, age at the start of use |
9 YR WHEELCHAIR |
| Stand without aid |
No |
| Sit without aid |
No |
| Neurologic |
| Problem controlling behavior |
No |
| Learning disability |
No |
| Treatment |
| Use of corticosteroids |
No |
| Use of alternative therapies |
No |
| Taking heart medication |
Yes |
| Tendon release surgery |
No |
| Laboratory Tests |
| Taken the Forced Vital Capacity (FVC%) test |
No |
| Cardiomyopathy |
Yes |
| Cardiac MRI |
No |
| Echocardiogram |
Yes |
| Holter monitor |
No |
| Taken the Left Ventricular Fraction (LVEF) test |
No |
| Taken the Left Ventricular Shortening Fraction (LVSF) test |
Yes |
| Had muscle biopsy |
Unknown |
| Molecular Tests |
| Genetic test performed |
Yes |
| If yes, list identified mutation |
DUP OF EXON 17 |
| Remarks |
Clinicaly affected; diagnosed at 6 years of age; wheelchair-dependent as of 9 years of age; diagnosed with heart problem; on Losartin and Carvedilol; previously broken legs and arms; donor subject has a duplication of exon 17 in the DMD gene |
| Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, Pyatt RE, Stonerock E, Johnson MA, Richards CS, Schrijver I, Ma T, Miller VR, Adadevoh Y, Furlong P, Beiswanger C, Toji L, Quality assurance for duchenne and becker muscular dystrophy genetic testing development of a genomic DNA reference material panel The Journal of molecular diagnostics : JMD13:167-74 2010 |
| PubMed ID: 21354051 |
| Gene Cards |
DMD |
| Gene Ontology |
GO:0003779 actin binding |
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GO:0005200 structural constituent of cytoskeleton |
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GO:0005509 calcium ion binding |
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GO:0005856 cytoskeleton |
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GO:0006936 muscle contraction |
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GO:0007016 cytoskeletal anchoring |
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GO:0007517 muscle development |
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GO:0008270 zinc ion binding |
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GO:0016010 dystrophin-associated glycoprotein complex |
| NCBI Gene |
Gene ID:1756 |
| NCBI GTR |
300377 DYSTROPHIN; DMD |
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310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD |
| OMIM |
300377 DYSTROPHIN; DMD |
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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 |
1:3 |
| 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 |
- |
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