NA05127
DNA from Fibroblast
Description:
MUSCULAR DYSTROPHY, DUCHENNE TYPE; 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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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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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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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| Passage Frozen |
2 |
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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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| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
E1845X; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
GLU1845TER |
| Remarks |
Clinically affected with Duchenne muscular dystrophy; diagnosed sometime before age 9; calf hypertrophy; progressive weakness; wheelchair bound sometime before age 12 but exact age at dependence is unknown; by age 12 there was mild scoliosis, lumbar lordosis, contractures of the knees, ankles, elbows and hips, marked weakness in the upper extremities, tight heelcords and hamstrings; muscle strength testing at age 12: quadriceps and biceps are antigravity bilaterally, hip flexors poor bilaterally, left shoulder flexor is antigravity and right is poor, shoulder abductors poor, neck flexors poor, neck extensors fair; by age 18 there was progressive deterioration of functioning, moderate scoliosis and only one arm could be raised to the chin; affected brother is GM05128; elevated CPK; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed this donor has a G>T transversion at nucleotide 5533 of the DMD gene (c.5533G>T) resulting in a stop at codon 1845 [Glu1845Ter (E1845X)] |
| Sun C, Choi IY, Rovira Gonzalez YI, Andersen P, Talbot CC, Iyer SR, Lovering RM, Wagner KR, Lee G, Duchenne muscular dystrophy hiPSC-derived myoblast drug screen identifies compounds that ameliorate disease in mdx mice JCI insight: 2020 |
| PubMed ID: 32343677 |
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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 |
| dbSNP |
dbSNP ID: 17972 |
| 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 |
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