GM23094
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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Family Member
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3
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Family History
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N
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Relation to Proband
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mother
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
deleted exons 35-43; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
EX35-43DEL |
| Demographic Data |
| Relation to Proband |
mother |
| Sex |
Female |
| |
| Data Elements |
| Clinical Element Type: Duchenne Muscular Dystrophy |
| (Baseline) |
| Diagnosis |
| Muscle Pain with increased activity or exercise |
No |
| Age at Diagnosis (in years) |
35 YR WHEN CONFIRMED AS CARRIER |
| Relative with similar muscle disease |
Yes |
| Skeletal/Mobility |
| Scoliosis |
No |
| Broken bones due to DMD |
No |
| Delays in motor development was initially recognized |
No |
| Toe Walking initially recognized |
No |
| Enlarged calves initially recognized |
No |
| Walking |
Yes |
| Mobility device ie stroller, wheelchair |
No |
| Stand without aid |
Yes |
| Sit without aid |
Yes |
| 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 |
Yes |
| Taken the Left Ventricular Fraction (LVEF) test |
Yes |
| Taken the Left Ventricular Shortening Fraction (LVSF) test |
Yes |
| Had muscle biopsy |
No |
| Molecular Tests |
| Genetic test performed |
Yes |
| If yes, list identified mutation |
DEL OF EXONS 35-43 |
| Remarks |
Confirmed carrier; mother of GM23095 and GM23096; diagnosed with heart condition; on Lisinopril; donor subject has a deletion of exons 35-43 in the DMD gene |
| Kozareva V, Stroff C, Silver M, Freidin JF, Delaney NF, Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model BMC medical genomics11:91 2018 |
| PubMed ID: 30342520 |
| |
| 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 |
1:4 |
| 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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