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NA05112 DNA from Fibroblast

Description:

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD

Affected:

Yes

Sex:

Male

Age:

13 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Muscular Dystrophies
dbGaP
Class Congenital Muscle Diseases
Quantity 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Unspecified
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Country of Origin USA
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN arr[hg19] Xp21.1(31,959,887-32,118,084)x0
Species Homo sapiens
Common Name Human
Remarks Clinically affected with Duchenne muscular dystrophy; diagnosed with neuromuscular disease at age one; progressive proximal weakness; calf hypertrophy; normal IQ; at age six there was toe walking, tight heelcords, limited range of motion in ankles and hip extension, good trunk strength, hamstring tightness, lumbar lordosis; by age nine there was a modified Gower's maneuver, gluteal gait, absent deep tendon reflexes, intact antigravity muscles in upper extremities, weakness of lower extremities, quads 2/5, knee extensor 2/5, knee flexors 3/5, weakness to ankle extensor more so than flexion, diminishment of pulmonary function; became wheelchair bound between ages 9 and 11; at age 11 there was progressive weakness in lower extremities, contractures at knees, hips and ankles, bicep and tricep strength grade IV+ bilaterally; ability to raise arms above head without difficulty; affected brother is GM05114/15; son of GM05116/17 (mother) and GM05118/19 (father); elevated CPK at age 1; muscle biopsy at age 10 revealed characteristic picture of a myopathy of the Duchenne muscular dystrophy type; donor subject has a deletion of exon 45 in the dystrophin gene as determined by multiplex PCR; same donor as GM05113 (lymphocyte).

Characterizations

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PDL at Freeze 4.62
Passage Frozen 4
 
creatine kinase According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene DMD
Chromosomal Location Xp21.2
Allelic Variant 1 ; DUCHENNE MUSCULAR DYSTROPHY
Identified Mutation EX45DEL

Phenotypic Data

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Remarks Clinically affected with Duchenne muscular dystrophy; diagnosed with neuromuscular disease at age one; progressive proximal weakness; calf hypertrophy; normal IQ; at age six there was toe walking, tight heelcords, limited range of motion in ankles and hip extension, good trunk strength, hamstring tightness, lumbar lordosis; by age nine there was a modified Gower's maneuver, gluteal gait, absent deep tendon reflexes, intact antigravity muscles in upper extremities, weakness of lower extremities, quads 2/5, knee extensor 2/5, knee flexors 3/5, weakness to ankle extensor more so than flexion, diminishment of pulmonary function; became wheelchair bound between ages 9 and 11; at age 11 there was progressive weakness in lower extremities, contractures at knees, hips and ankles, bicep and tricep strength grade IV+ bilaterally; ability to raise arms above head without difficulty; affected brother is GM05114/15; son of GM05116/17 (mother) and GM05118/19 (father); elevated CPK at age 1; muscle biopsy at age 10 revealed characteristic picture of a myopathy of the Duchenne muscular dystrophy type; donor subject has a deletion of exon 45 in the dystrophin gene as determined by multiplex PCR; same donor as GM05113 (lymphocyte).

Publications

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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

External Links

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dbSNP dbSNP ID: 21756
Gene Cards DMD
Gene Ontology GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005509 calcium ion binding
GO:0005856 cytoskeleton
GO:0006936 muscle contraction
GO:0007016 cytoskeletal anchoring
GO:0007517 muscle development
GO:0008270 zinc ion binding
GO:0016010 dystrophin-associated glycoprotein complex
GEO GEO Accession No: GSM1133456
GEO Accession No: GSM1133457
GEO Accession No: GSM1133458
NCBI Gene Gene ID:1756
NCBI GTR 300377 DYSTROPHIN; DMD
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
OMIM 300377 DYSTROPHIN; DMD
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
Omim Description APO-DYSTROPHIN 1, INCLUDED
  BMDDYSTROPHIN, INCLUDED; DMD, INCLUDED
  CARDIOMYOPATHY, X-LINKED DILATED, INCLUDED; XLCM, INCLUDED
  MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKERTYPES; DMD

Images

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View pedigree 
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM05112 - Fibroblast
  • GM05113 - B-Lymphocyte
  • GM25313 - Stem cell
Same Family
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