NA04364
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
GeT-RM Samples
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 |
6.61 |
| Passage Frozen |
9 |
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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 |
EX51-55DEL |
| Remarks |
Clinically affected with Duchenne muscular dystrophy; diagnosed sometime before age 10; calf hypertrophy; Gower's maneuver; ambulatory at age 10; muscle testing at age 10 showed most muscles to be in fair to poor range but good muscle power demonstrated in hamstrings, posterior and anterior tibs and upper trapezius; at age 10 there were tight heelcords, tightness of the hip flexors, hamstrings and knees; son of GM04363; elevated CPK; muscle biopsy showed classical histological findings of Duchenne muscular dystrophy; donor subject shows a deletion of exons 51-55 of the dystrophin gene by multiplex ligation probe amplification (MLPA) analysis |
| 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 |
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| Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, Pyatt RE, Stonerock E, Johnson MA, Richards CS, Schrijver I, Ma T, Miller VR, Adadevoh Y, Furlong P, Beiswanger C, Toji L, Quality assurance for duchenne and becker muscular dystrophy genetic testing development of a genomic DNA reference material panel The Journal of molecular diagnostics : JMD13:167-74 2010 |
| PubMed ID: 21354051 |
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| Woodhead, Avril D., Blackett, Anthony D., and Hollaender, Alexander (editors), Molecular Biology of Aging The Journal of molecular diagnostics : JMD13:pp 315-344 1985 |
| PubMed ID: 21354051 |
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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: 17231 |
| 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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