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GM03780 LCL from B-Lymphocyte

Description:

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
DYSTROPHIN; DMD

Affected:

Yes

Sex:

Male

Age:

11 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
Alternate IDs GM17091 [MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD]
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity SPANISH
Family Member 1
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Latin American; elevated serum CPK; similarly affected sib; see GM03781 Fibroblast; 46,XY; PCR analysis of dystrophin gene shows deletion starting at exon 2 or 3 through at least exon 17, exon 19 is not deleted

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis
 
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 EX3-17DEL

Phenotypic Data

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Remarks Latin American; elevated serum CPK; similarly affected sib; see GM03781 Fibroblast; 46,XY; PCR analysis of dystrophin gene shows deletion starting at exon 2 or 3 through at least exon 17, exon 19 is not deleted

Publications

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Zheng F, Chen Z, Li J, Wu R, Zhang B, Nie G, Xie Z, Zhang H, A Highly Sensitive CRISPR-Empowered Surface Plasmon Resonance Sensor for Diagnosis of Inherited Diseases with Femtomolar-Level Real-Time Quantification Advanced science (Weinheim, Baden-Wurttemberg, Germany)9:e2105231 2022
PubMed ID: 35343100
 
Hajian R, Balderston S, Tran T, deBoer T, Etienne J, Sandhu M, Wauford NA, Chung JY, Nokes J, Athaiya M, Paredes J, Peytavi R, Goldsmith B, Murthy N, Conboy IM, Aran K, Detection of unamplified target genes via CRISPR-Cas9 immobilized on a graphene field-effect transistor Nature biomedical engineering3:427-437 2018
PubMed ID: 31097816
 
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: 10696
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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Split Ratio 1:5
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
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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