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GM03604 Fibroblast

Description:

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD

Affected:

Yes

Sex:

Male

Age:

4 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Muscular Dystrophies
dbGaP
Class Congenital Muscle Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Cell Type Fibroblast
Transformant Untransformed
Race White
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Abnormal EMG; abnormal muscle biopsy; elevated CPK; no family history of muscular dystrophies; PCR analysis of dystrophin gene shows deletion of at least exon 19; 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 deletion of exons 18-41

Characterizations

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Passage Frozen 6
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
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 EX18-41DEL

Phenotypic Data

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Remarks Abnormal EMG; abnormal muscle biopsy; elevated CPK; no family history of muscular dystrophies; PCR analysis of dystrophin gene shows deletion of at least exon 19; 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 deletion of exons 18-41

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
 
Goldman D, Goldin LR, Rathnagiri P, O'Brien SJ, Egeland JA, Merril CR, Twenty-seven protein polymorphisms by two-dimensional electrophoresis of serum, erythrocytes, and fibroblasts in two pedigrees. Am J Hum Genet37:898-911 1985
PubMed ID: 3863481
 
Wrogemann, Searching for the gene product(s) responsible for Duchenne muscular dystrophy. Ital J Neurol SciSuppl 3:51 (1984):898-911 1984
PubMed ID: 3863481

External Links

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dbSNP dbSNP ID: 21388
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
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

Culture Protocols

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Passage Frozen 6
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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