NA05017
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
dbGaP |
| 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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1
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Relation to Proband
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proband
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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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| PDL at Freeze |
6.05 |
| Passage Frozen |
6 |
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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 |
EX45-50DEL |
| Remarks |
Clinically affected with Duchenne muscular dystrophy; diagnosis made at age 4; progressive muscular dystrophy; weakness; waddling gait noted at age 4 and subsequent progressive deterioration in walking ability; wheelchair bound by age 10; at age 10 there was good upper arm strength, no scoliosis, inability to lift leg off wheelchair pad; son of GM05022/23; elevated CPK; muscle biopsy performed but results unavailable; donor subject has a deletion of exons 45-50 in the dystrophin gene as determined by multiplex PCR; same donor as GM05016 (lymphocyte). |
| 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 |
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| 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:e2105231 2018 |
| PubMed ID: 29771942 |
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| 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 |
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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: 17362 |
| 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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