Description:
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Congenital Muscle Diseases |
| Class |
Disorders with Trinucleotide Expansions |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Country of Origin
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USA
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Family Member
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4
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Relation to Proband
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spouse
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Unaffected; 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. The D4Z4 microsatellite is not contracted in this individual. 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-Houari M. et al (Euro J Hum Genet., 2010) and are as follows 4A161/4A-L161, 10A164/10A166; characterization of this line described by T.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 1944 (Family 18 in the Jones publication).
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| 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 |
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