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NA16278 DNA from LCL

Description:

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1

Affected:

Yes

Sex:

Male

Age:

65 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Muscular Dystrophies
Class Congenital Muscle Diseases
Class Disorders with Trinucleotide Expansions
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Country of Origin USA
Family Member 7
Relation to Proband brother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; D4Z4 fragment size was determined using Southern Blot analysis with probe p13E-11, which is localized immediately proximal to D4Z4, after double digestion of genomic DNA with EcoRI and BlnI restriction enzymes. This patient carries D4Z4 allele of 22kb on chromosome 4qA corresponding to 4 or less D4Z4 repeats, which is below the ≤10 repeat threshold for a pathogenic allele. The permissive haplotype 4qA carries polyadenylation signal (PAS) as determined using the primers and protocol described by Lemmers R.J.F. et al (Science, 2010). The 4qA, 4qB and chromosome 10q haplotype structures were determined by 4A/4A-L/4B subtelomere haplotyping, SSLP haplotyping, and 4qSTR analysis as described by Lemmers R.J.F. et al (Am J Hum Genet., 2010 and Science, 2010), Snider L. et al (PLoS Genetics, 2010), and Barat-Hourari M. et al (Euro J Hum Genet., 2010) and are as follows 4A161/4C166H, 10A166/10A166. Characterization of this line described by S.I. Jones et al, Neuromuscular Disorders (2016), http://dx.doi.org/doi:10.1016/j.nmd.2016.12.007; several affected family members; refer to catalog Family 1939 (Family 2 in the Jones publication).

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 

Phenotypic Data

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Remarks Clinically affected; D4Z4 fragment size was determined using Southern Blot analysis with probe p13E-11, which is localized immediately proximal to D4Z4, after double digestion of genomic DNA with EcoRI and BlnI restriction enzymes. This patient carries D4Z4 allele of 22kb on chromosome 4qA corresponding to 4 or less D4Z4 repeats, which is below the ≤10 repeat threshold for a pathogenic allele. The permissive haplotype 4qA carries polyadenylation signal (PAS) as determined using the primers and protocol described by Lemmers R.J.F. et al (Science, 2010). The 4qA, 4qB and chromosome 10q haplotype structures were determined by 4A/4A-L/4B subtelomere haplotyping, SSLP haplotyping, and 4qSTR analysis as described by Lemmers R.J.F. et al (Am J Hum Genet., 2010 and Science, 2010), Snider L. et al (PLoS Genetics, 2010), and Barat-Hourari M. et al (Euro J Hum Genet., 2010) and are as follows 4A161/4C166H, 10A166/10A166. Characterization of this line described by S.I. Jones et al, Neuromuscular Disorders (2016), http://dx.doi.org/doi:10.1016/j.nmd.2016.12.007; several affected family members; refer to catalog Family 1939 (Family 2 in the Jones publication).

Publications

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Banerji CRS, Macura MP, Zammit PS, DUX4-expressing immortalised FSHD lymphoblastoid cells express genes elevated in FSHD muscle biopsies, correlating with the early stages of inflammation Human molecular genetics: 2020
PubMed ID: 32242220
 
Jones TI, Himeda CL, Perez DP, Jones PL, Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy Neuromuscular disorders : NMD27:221-238 2016
PubMed ID: 28161093

External Links

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NCBI Gene Gene ID:2489
NCBI GTR 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
OMIM 158900 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
Omim Description FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS ANDTORTUOSITY OF RETINAL ARTERIOLES, INCLUDED
  FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A; FSHMD1A
  FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FMD
  LANDOUZY-DEJERINE MUSCULAR DYSTROPHYFACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE, INCLUDED
  MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL, TYPE 1A; FSHD1A
  MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; FSHD
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM16278 - B-Lymphocyte
Same Family
  • 1939
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