NA03783
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 |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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SPANISH
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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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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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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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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 |
; DUCHENNE MUSCULAR DYSTROPHY |
| Identified Mutation |
EX3-17DEL |
| Remarks |
Clinically affected; Latin American; wheelchair bound by age 9; tight heelcords; range of motion of all major joints is intact; muscle strength in upper extremities shows fair + muscle strength of proximal muscle groups and a fair + to good - of distal muscle groups; muscles in lower extremities are one grade lower compared to upper extremities; straight back; elevated serum CPK of 9,654; PCR analysis of lymphoblast dystrophin gene shows deletion starting at exon 2 or 3 through at least exon 17, exon 19 is not deleted; affected brother is GM03780/GM03781; same donor as GM03782 (lymphocyte). |
| Woodhead, Avril D., Blackett, Anthony D., and Hollaender, Alexander (editors), Molecular Biology of Aging :pp 315-344 1985 |
| PubMed ID: |
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| Wright PS, McKinney E, Berry S, Evers A, Kent C, A functional membrane repair system in Duchenne muscular dystrophy fibroblasts. J Neurol Sci64:259-64 1984 |
| PubMed ID: 6088703 |
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| Kent C, Increased rate of cell-substratum detachment of fibroblasts from patients with Duchenne muscular dystrophy. Proc Natl Acad Sci U S A80:3086-90 1983 |
| PubMed ID: 6574472 |
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| Tarone RE, Scudiero DA, Robbins JH, Statistical methods for in vitro cell survival assays. Mutat Res111:79-96 1983 |
| PubMed ID: 6621576 |
| dbSNP |
dbSNP ID: 21029 |
| 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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