NA05114
DNA from Fibroblast
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 |
| 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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2
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Relation to Proband
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brother
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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 |
| |
| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
EX45DEL |
| Remarks |
Clinically affected with Duchenne muscular dystrophy; diagnosed at age 10; calf hypertrophy; progressive muscle weakness; toe walking, difficulty with stairs and frequent falls noted at age 4; wheelchair bound by age 10; by age 15 there was mild scoliosis, lumbar lordosis, contractures of the elbows, ankles, hips and knees, marked weakness in upper extremities, tight heelcords; by age 20 there was inability to flex hips against gravity, inability to raise hands above head; donor subject has a deletion of exon 45 in the dystrophin gene as determined by multiplex PCR; affected brother is GM05112/13; son of GM05116/17 (mother) and GM05118/19 (father); elevated CPK; same donor as GM05115 (lymphocyte). |
| 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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| Xiang X, Zhao X, Pan X, Dong Z, Yu J, Li S, Liang X, Han P, Qu K, Jensen JB, Farup J, Wang F, Petersen TS, Bolund L, Teng H, Lin L, Luo Y, Efficient correction of Duchenne muscular dystrophy mutations by SpCas9 and dual gRNAs Molecular therapy Nucleic acids24:403-415 2020 |
| PubMed ID: 33868784 |
| dbSNP |
dbSNP ID: 16146 |
| 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 |
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