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 |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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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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Molecular characterization - other
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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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| PDL at Freeze |
5.83 |
| Passage Frozen |
5 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Gene |
DMD |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
EX46-50DEL |
| Remarks |
Clinically affected; diagnosed at age 2; wheelchair bound by age 8; progressive weakness; subacute inversion of ankles; muscle weakness proximally and distally in the lower extremities with inability to move against gravity; muscle strength at +3 for pectoralis group, supraspinatus and infraspinatus; moderate weakness of biceps and triceps; nominal grip bilaterally; absent reflexes; contractures of elbows and lower extremities; muscle biopsy consistent with DMD; PCR analysis of dystrophin gene shows deletion from exon 46 through exon 50; affected brother died at age 16 and 2 male maternal cousins also affected; same donor as GM03929 (lymphocyte). |
| Lee J1, Echigoya Y2, Duddy W3, Saito T4, Aoki Y4, Takeda S4, Yokota T, Antisense PMO cocktails effectively skip dystrophin exons 45-55 in myotubes transdifferentiated from DMD patient fibroblasts PLoS One13: 2018 |
| PubMed ID: 29771942 |
| |
| Lee JJA, Saito T, Duddy W, Takeda S, Yokota T, Direct Reprogramming of Human DMD Fibroblasts into Myotubes for In Vitro Evaluation of Antisense-Mediated Exon Skipping and Exons 45-55 Skipping Accompanied by Rescue of Dystrophin Expression Methods in molecular biology (Clifton, NJ)1828:141-150 2018 |
| PubMed ID: 30171539 |
| |
| Panet R, Atlan H, Bumetanide-sensitive Na+/K+/Cl- transporter is stimulated by phorbol ester and different mitogens in quiescent human skin fibroblasts. J Cell Physiol145:30-8 1990 |
| PubMed ID: 2211842 |
| dbSNP |
dbSNP ID: 15826 |
| 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 |
| Cumulative PDL at Freeze |
11 |
| Passage Frozen |
5 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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