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GM05090 LCL from B-Lymphocyte

Description:

MUSCULAR DYSTROPHY, BECKER TYPE; BMD
DYSTROPHIN; DMD

Affected:

Yes

Sex:

Male

Age:

28 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
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; Becker type; diagnosed at age 8; progressive muscle weakness; calf hypertrophy; by age 27 there was proximal muscle weakness, increasing difficulty in coming to standing position, inability to extend ankles to 90 degrees, markedly weak quadricep muscle with inability to extend legs against gravity at the knees; seizure disorder; elevated CPK; muscle biopsy showed inflammatory and fibronic changes (processed by formal and fixed parafin section analysis); donor subject has a deletion of exons 3-5 in the dystrophin gene as determined by multiplex PCR; same donor as GM05089 Fibroblast

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
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 EX3-5DEL

Phenotypic Data

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Remarks Clinically affected; Becker type; diagnosed at age 8; progressive muscle weakness; calf hypertrophy; by age 27 there was proximal muscle weakness, increasing difficulty in coming to standing position, inability to extend ankles to 90 degrees, markedly weak quadricep muscle with inability to extend legs against gravity at the knees; seizure disorder; elevated CPK; muscle biopsy showed inflammatory and fibronic changes (processed by formal and fixed parafin section analysis); donor subject has a deletion of exons 3-5 in the dystrophin gene as determined by multiplex PCR; same donor as GM05089 Fibroblast

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

External Links

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dbSNP dbSNP ID: 10786
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 300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD
300377 DYSTROPHIN; DMD
OMIM 300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD
300377 DYSTROPHIN; DMD
Omim Description MUSCULAR DYSTROPHY BECKER TYPE; BMD

Culture Protocols

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Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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