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
dbGaP |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Alternate IDs |
GM17091 [MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD] |
| 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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Ethnicity
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SPANISH
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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 after cell line submission to CCR
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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 Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| 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 |
EX3-17DEL |
| Remarks |
Latin American; elevated serum CPK; similarly affected sib; see GM03781 Fibroblast; 46,XY; PCR analysis of dystrophin gene shows deletion starting at exon 2 or 3 through at least exon 17, exon 19 is not deleted |
| Zheng F, Chen Z, Li J, Wu R, Zhang B, Nie G, Xie Z, Zhang H, A Highly Sensitive CRISPR-Empowered Surface Plasmon Resonance Sensor for Diagnosis of Inherited Diseases with Femtomolar-Level Real-Time Quantification Advanced science (Weinheim, Baden-Wurttemberg, Germany)9:e2105231 2022 |
| PubMed ID: 35343100 |
| |
| 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 |
| |
| 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: 10696 |
| 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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