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GM07692 LCL from B-Lymphocyte

Description:

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

Affected:

No Data

Sex:

Female

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
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 2
Relation to Proband mother
Confirmation Clinical summary/Case history
ISCN 46,XX
Species Homo sapiens
Common Name Human
Remarks Proven carrier of Chronic Granulomatous Disease by the quantitative NBT test; normal CPK; 46,XX; a mat uncle has questionable CGD; another maternal cousin related through a male has DMD (apparently incidental); 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); affected son is GM07691.

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 DMD
Chromosomal Location Xp21.2
Allelic Variant 1 ; DUCHENNE MUSCULAR DYSTROPHY
Identified Mutation EX1-18DEL (DEL 5 PRIME END-18)

Phenotypic Data

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Remarks Proven carrier of Chronic Granulomatous Disease by the quantitative NBT test; normal CPK; 46,XX; a mat uncle has questionable CGD; another maternal cousin related through a male has DMD (apparently incidental); 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); affected son is GM07691.

Publications

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Kellogg G, Thorsson B, Cai Y, Wisotzkey R, Pollock A, Akana M, Fox R, Jansen M, Gudmundsson EF, Patel B, Chang C, Jaremko M, Puig O, Gudnason V, Emilsson V, Molecular screening of familial hypercholesterolemia in Icelanders Scandinavian journal of clinical and laboratory investigation:1-7 2020
PubMed ID: 32706999
 
Kozareva V, Stroff C, Silver M, Freidin JF, Delaney NF, Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model BMC medical genomics11:91 2018
PubMed ID: 30342520
 
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
 
Baehner RL, Kunkel LM, Monaco AP, Haines JL, Conneally PM, Palmer C, Heerema N, Orkin SH, DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A83:3398-401 1986
PubMed ID: 3010296
 
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: 16620
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 1:4
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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