Description:
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
TURNER SYNDROME
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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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2
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Relation to Proband
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sister
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Confirmation
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Clinical summary/Case history
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ISCN
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45,X,t(4;14)(q27;q13)[25].arr(X)x1
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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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Turner syndrome; clinically unaffected sister of GM16348; exhibits no muscle weakness; required treatment for an overactive thyroid as a child |
| 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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