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GM05082 LCL from B-Lymphocyte

Description:

MUSCULAR DYSTROPHY, BECKER TYPE; BMD

Affected:

Yes

Sex:

Male

Age:

10 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
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 with Becker's muscular dystrophy; diagnosed at age 9; progressive weakness; calf hypertrophy; began walking at 13 months but did not start crawling until after walking began; calf and thigh cramping when running at age 7; difficulty climbing stairs and frequent falls at age 8; by age 9 there was a positive Gower's maneuver, gluteal gait, hypotonia of the four extremities, depressed deep tendon reflexes, marked weakness in hip flexors, weakness to ankle dorsiflexion, hip adduction, hip abduction and flexion, weakness to neck flexion, shoulder adduction and abduction, atrophy of anterior hip groups, moderate lumbar lordosis, mild contractures of the ankles, upper nystagmus; muscle testing at age 9: neck flexors 4/5, neck extensors 5/5, deltoids 4/5, pectorals 4/5, biceps 5-/5, triceps 5/5, wrist extensors 5/5, psoas 4+/5, quadriceps 5-/5, hamstrings 5/5, tibialis anterior 5-/5, gastrocnemius 5/5; by age 11 there was marked weakness in the lower extremity proximal muscles and mild weakness in the upper extremity proximal muscles; son of GM05087/88; elevated CPK; muscle biopsy confirmed myopathy of the DMD type with very mild involvement suggestive of the Becker variant; same donor as GM05081 Fibroblast; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed no detectable mutations

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
 

Phenotypic Data

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Remarks Clinically affected with Becker's muscular dystrophy; diagnosed at age 9; progressive weakness; calf hypertrophy; began walking at 13 months but did not start crawling until after walking began; calf and thigh cramping when running at age 7; difficulty climbing stairs and frequent falls at age 8; by age 9 there was a positive Gower's maneuver, gluteal gait, hypotonia of the four extremities, depressed deep tendon reflexes, marked weakness in hip flexors, weakness to ankle dorsiflexion, hip adduction, hip abduction and flexion, weakness to neck flexion, shoulder adduction and abduction, atrophy of anterior hip groups, moderate lumbar lordosis, mild contractures of the ankles, upper nystagmus; muscle testing at age 9: neck flexors 4/5, neck extensors 5/5, deltoids 4/5, pectorals 4/5, biceps 5-/5, triceps 5/5, wrist extensors 5/5, psoas 4+/5, quadriceps 5-/5, hamstrings 5/5, tibialis anterior 5-/5, gastrocnemius 5/5; by age 11 there was marked weakness in the lower extremity proximal muscles and mild weakness in the upper extremity proximal muscles; son of GM05087/88; elevated CPK; muscle biopsy confirmed myopathy of the DMD type with very mild involvement suggestive of the Becker variant; same donor as GM05081 Fibroblast; dystrophin gene shows no detectable deletion or duplication by multiplex ligation probe amplification (MLPA) analysis; DNA sequencing showed no detectable mutations

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
 
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

External Links

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dbSNP dbSNP ID: 18856
NCBI GTR 300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD
OMIM 300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD
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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