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GM07691 LCL from B-Lymphocyte

Description:

MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 314850
DYSTROPHIN; DMD

Affected:

Yes

Sex:

Male

Age:

No Data

  • 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
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity JEWISH
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,Y,del(X)(p21.1>p11.4)
Species Homo sapiens
Common Name Human
Remarks Classical symptoms of DMD; also has Chronic Granulomatous Disease; elevated CPK; abnormal WBC NBT test; bactericidal defect with chronic aspergillosis pulmonary infection; PCR analysis of Dystrophin gene shows deletion starting at the 5 prime end and extends at least through exon 17, exon 19 is not deleted; MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 1-18 including alternate exon 1 (del 5 prime end-18); mother is GM07692.

Characterizations

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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 and by Chromosome Analysis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
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 EX1-18DEL (DEL 5 PRIME END-18)
Cytogenetics Chromosome X: DELETION Aneuploid Segment (-)Xp21.1>Xp11.4

Phenotypic Data

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Remarks Classical symptoms of DMD; also has Chronic Granulomatous Disease; elevated CPK; abnormal WBC NBT test; bactericidal defect with chronic aspergillosis pulmonary infection; PCR analysis of Dystrophin gene shows deletion starting at the 5 prime end and extends at least through exon 17, exon 19 is not deleted; MLPA analysis of Dystrophin gene alterations and copy number variation (CNV) analysis using the Affymetrix 6.0 gene chip performed on DNA made from this culture showed the deletion of exons 1-18 including alternate exon 1 (del 5 prime end-18); mother is GM07692.

Publications

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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
 
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
 
Brown J, Dry KL, Edgar AJ, Pryde FE, Hardwick LJ, Aldred MA, Lester DH, Boyle S, Kaplan J, Dufier JL, Ho MF, Monaco AM, Musarella MA, Wright AF, Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3. Genomics37:200-10 1996
PubMed ID: 8921393
 
Kousseff B, Linkage between chronic granulomatous disease and Duchenne's muscular dystrophy? [letter] Am J Dis Child135:1149 1981
PubMed ID: 7315816

External Links

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dbSNP dbSNP ID: 11036
Gene Cards DMD
XK
Gene Ontology GO:0003779 actin binding
GO:0005200 structural constituent of cytoskeleton
GO:0005215 transporter activity
GO:0005509 calcium ion binding
GO:0005856 cytoskeleton
GO:0006810 transport
GO:0006865 amino acid transport
GO:0006936 muscle contraction
GO:0007016 cytoskeletal anchoring
GO:0007517 muscle development
GO:0008270 zinc ion binding
GO:0015171 amino acid transporter activity
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016021 integral to membrane
NCBI Gene Gene ID:1756
Gene ID:7504
NCBI GTR 300377 DYSTROPHIN; DMD
306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK
OMIM 300377 DYSTROPHIN; DMD
306400 GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CGDX
310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD
314850 KELL BLOOD GROUP PROTEIN, MCLEOD SYNDROME-ASSOCIATED; XK
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 1:3
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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