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
dbGaP |
| Class |
Congenital Muscle Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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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 |
EX45-62DUP |
| Remarks |
Clinically affected with Duchenne muscular dystrophy; diagnosed at age 7; calf hypertrophy; progressive proximal weakness; wheelchair bound by 9 1/2 years; by age 12 there was marked muscle weakness of the ankles, hips and knees and diffuse muscle weakness involving shoulder girdle, triceps and biceps, inability to read; by age 22 there was scoliosis, marked contractures of the lower extremities, and no movement of the upper extremities with the exception of the hands; affected brother is GM05123; elevated CPK; same donor as GM05125 Fibroblast; MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the duplication of exons 45-62 |
| Warren PD, Dodson MS, Smith MH, Landowski TH, Palting JD, Towne P, High-Resolution Epitope Mapping and Affinity Binding Analysis Comparing a New Anti-Human LAG3 Rabbit Antibody Clone to the Commonly Used Mouse 17B4 Clone Antibodies11: 2022 |
| PubMed ID: 36278613 |
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| Hajian R, Balderston S, Tran T, deBoer T, Etienne J, Sandhu M, Wauford NA, Chung JY, Nokes J, Athaiya M, Paredes J, Peytavi R, Goldsmith B, Murthy N, Conboy IM, Aran K, Detection of unamplified target genes via CRISPR-Cas9 immobilized on a graphene field-effect transistor Nature biomedical engineering3:427-437 2018 |
| PubMed ID: 31097816 |
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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| dbSNP |
dbSNP ID: 15877 |
| 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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