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GM04327 Fibroblast

Description:

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD

Affected:

Yes

Sex:

Male

Age:

23 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
GeT-RM Samples
dbGaP
Class Congenital Muscle Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Cell Type Fibroblast
Transformant Untransformed
Race White
Ethnicity SARDINIAN
Family Member 2
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN arr Xp21.1(32737385-32760085)x2
Species Homo sapiens
Common Name Human
Remarks Clinically affected with DMD; Sardinian; normal G6PD; 1 affected brother 1 affected sororal nephew; donor subject shows a duplication of exons 5-7 of the dystrophin gene by multiplex ligation probe amplification (MLPA) analysis

Characterizations

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Passage Frozen 3
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
Gene DMD
Chromosomal Location Xp21.2
Allelic Variant 1 ; DUCHENNE MUSCULAR DYSTROPHY
Identified Mutation EX5-7DUP

Phenotypic Data

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Remarks Clinically affected with DMD; Sardinian; normal G6PD; 1 affected brother 1 affected sororal nephew; donor subject shows a duplication of exons 5-7 of the dystrophin gene by multiplex ligation probe amplification (MLPA) analysis

Publications

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Andrew M. Gross PhD, Subramanian S. Ajay PhD, Vani Rajan MS, Carolyn Brown CGC, Krista Bluske PhD, Nicole J. Burns MS, Aditi Chawla PhD, Alison J. Coffey PhD, Alka Malhotra PhD, Alicia Scocchia MS CGC, Erin Thorpe MS CGC, Natasa Dzidic MS, Karine Hovanes PhD FACMG, Trilochan Sahoo MD FACMG, Egor Dolzhenko PhD, Bryan Lajoie PhD, Amirah Khouzam MS CGC, Shimul Chowdhury PhD FACMG, John Belmont MD PhD, Eric Roller PhD, Sergii Ivakhno PhD, Stephen Tanner PhD, Julia McEachern PA MHS, Tina Hambuch PhD FACMG, Michael Eberle PhD, R. Tanner Hagelstrom PhD FACMG, David R. Bentley PhD, Denise L. Perry MS CGC & Ryan J. Taft PhD, Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Genetics in Medicine: 2018
PubMed ID: 30293986
 
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
 
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
 
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

External Links

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dbSNP dbSNP ID: 15076
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 3
Split Ratio 1:4
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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