GM23127
LCL from B-Lymphocyte
Description:
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
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 |
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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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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 |
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| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
duplicated exons 27-28; BECKER MUSCULAR DYSTROPHY |
| Identified Mutation |
EX27-28DUP |
| Demographic Data |
| Relation to Proband |
proband |
| Sex |
Male |
| Racial Category |
White |
| |
| Data Elements |
| Clinical Element Type: Duchenne Muscular Dystrophy |
| (Baseline) |
| Diagnosis |
| Muscle Pain with increased activity or exercise |
Yes |
| Age at Diagnosis (in years) |
6 |
| Age at first symptom or medical concern |
5 YR |
| Relative with similar muscle disease |
No |
| Skeletal/Mobility |
| Scoliosis |
No |
| Broken bones due to DMD |
No |
| Delays in motor development was initially recognized |
No |
| Toe Walking initially recognized |
Yes |
| 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 |
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 |
Yes |
| Had muscle biopsy |
No |
| Molecular Tests |
| Genetic test performed |
Yes |
| If yes, list identified mutation |
DUP OF EXONS 27-28 |
| Remarks |
Clinically affected; muscle pain and cramps; toe walking; elevated liver enzymes; diagnosed at 6 years of age; walks without mobility devices; donor subject has a duplication of exons 27-28 in the DMD gene |
| Andrew M. Gross PhD, Subramanian S. Ajay PhD, Vani Rajan MS, Carolyn Brown CGC, Krista Bluske PhD, Nicole J. Burns MS, Aditi Chawla PhD, Alison J. Coffey PhD, Alka Malhotra PhD, Alicia Scocchia MS CGC, Erin Thorpe MS CGC, Natasa Dzidic MS, Karine Hovanes PhD FACMG, Trilochan Sahoo MD FACMG, Egor Dolzhenko PhD, Bryan Lajoie PhD, Amirah Khouzam MS CGC, Shimul Chowdhury PhD FACMG, John Belmont MD PhD, Eric Roller PhD, Sergii Ivakhno PhD, Stephen Tanner PhD, Julia McEachern PA MHS, Tina Hambuch PhD FACMG, Michael Eberle PhD, R. Tanner Hagelstrom PhD FACMG, David R. Bentley PhD, Denise L. Perry MS CGC & Ryan J. Taft PhD, Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Genetics in Medicine: 2018 |
| PubMed ID: 30293986 |
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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 |
| 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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