GM23086
LCL from B-Lymphocyte
Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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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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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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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 |
duplicated exons 2-30; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
EX2-30DUP |
| Demographic Data |
| Relation to Proband |
proband |
| Sex |
Male |
| |
| Data Elements |
| Clinical Element Type: Duchenne Muscular Dystrophy |
| (Baseline) |
| Diagnosis |
| Muscle Pain with increased activity or exercise |
No |
| Age at Diagnosis (in years) |
2 |
| Age at first symptom or medical concern |
1 YR |
| Relative with similar muscle disease |
No |
| Skeletal/Mobility |
| Scoliosis |
No |
| Broken bones due to DMD |
No |
| Delays in motor development was initially recognized |
Yes |
| Walking |
Yes |
| If yes, type of walking device |
AFO AT NIGHT |
| Mobility device ie stroller, wheelchair |
Yes |
| Stand without aid |
Yes |
| Sit without aid |
Yes |
| Neurologic |
| Problem controlling behavior |
No |
| Learning disability |
No |
| Treatment |
| Use of corticosteroids |
Yes |
| If yes, list those you are currently taking |
DEFLAZACORT |
| What is the current dosage of medication(s) |
DAILY |
| Use of alternative therapies |
No |
| Taking heart medication |
No |
| Tendon release surgery |
No |
| Laboratory Tests |
| Taken the Forced Vital Capacity (FVC%) test |
No |
| Cardiomyopathy |
No |
| Cardiac MRI |
No |
| Echocardiogram |
Yes |
| Holter monitor |
No |
| Taken the Left Ventricular Fraction (LVEF) test |
Yes |
| Taken the Left Ventricular Shortening Fraction (LVSF) test |
No |
| Had muscle biopsy |
No |
| Molecular Tests |
| Genetic test performed |
Yes |
| If yes, list identified mutation |
DUP OF EXONS 2-30 |
| Remarks |
Clinically affected; delayed motor development; frequent falls; diagnosed at 2 years of age; walks, but uses stroller for long outings; currently on daily corticosteroids; donor subject has a duplication of exons 2-30 in the DMD gene |
| Shi J, Tan P, Han D, Zhang R, Li J, Zhang R, Non-invasive prenatal screening for foetal trisomy: An assessment of reliability and reporting Clinical biochemistry100:71-77 2021 |
| PubMed ID: 34843730 |
| |
| 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 |
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| 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 |
1:5 |
| 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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