Description:
MUSCULAR DYSTROPHY, BECKER TYPE; BMD
DYSTROPHIN; DMD
Repository
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No Data
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Subcollection |
Heritable Diseases Muscular Dystrophies GeT-RM Samples dbGaP |
Class |
Disorders of Connective Tissue, Muscle, and Bone |
Sample Source
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No Data
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Subject Type
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No Data
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Family Type
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No Data
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Ethnicity
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No Data
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Family Member
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No Data
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Genetic Data
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No Data
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Passage Frozen |
9 |
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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creatine kinase |
According to the submitter, biochemical test results for this subject showed increased enzyme activity. EC Number: 2.7.3.2 |
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Gene |
DMD |
Chromosomal Location |
Xp21.2 |
Allelic Variant 1 |
; DUCHENNE MUSCULAR DYSTROPHY |
Identified Mutation |
EX45-53DEL |
Zhang Y, Li Y, Hu Q, Xi Y, Xing Z, Zhang Z, Huang L, Wu J, Liang K, Nguyen TK, Egranov SD, Sun C, Zhao Z, Hawke DH, Li J, Sun D, Kim JJ, Zhang P, Cheng J, Farida A, Hung MC, Han L, Darabi R, Lin C, Yang L, The lncRNA H19 alleviates muscular dystrophy by stabilizing dystrophin Nature cell biology22:1332-1345 2020 |
PubMed ID: 33106653 |
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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 |
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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 |
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Park IH, Arora N, Huo H, Maherali N, Ahfeldt T, Shimamura A, Lensch MW, Cowan C, Hochedlinger K, Daley GQ, Disease-Specific Induced Pluripotent Stem Cells Cell134(5):877-86 2008 |
PubMed ID: 18691744 |
Passage Frozen |
9 |
Split Ratio |
1:3 |
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 |
- |
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