Description:
DYSTROPHIA MYOTONICA 1; DM1
DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Muscular Dystrophies |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Class |
Disorders with Trinucleotide Expansions |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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4
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Relation to Proband
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mother
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Confirmation
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Molecular characterization - other
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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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| PDL at Freeze |
4.28 |
| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
DMPK |
| Chromosomal Location |
19q13.2-q13.3 |
| Allelic Variant 1 |
605377.0001; MYOTONIC DYSTROPHY |
| Identified Mutation |
(CTG)n EXPANSION; The consistent genetic defect associated with myotonic dystrophy is an amplified trinucleotide CTG repeat in the 3-prime untranslated region of the serine-threonine kinase gene DMK on 19q. Unaffected individuals have between 5 and 27 copies. DM patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat-containing segment up to several kilobases. |
| Remarks |
Distal weakness; cataracts; clinical and electrical (EMG) myotonia; frontal baldness; see GM03990B Lymphoid; characterization of lymphoblast DNA showed 50 to 80 CTG repeats by PCR, no visible expansion by Southern analysis |
| Zarouchlioti C, Sanchez-Pintado B, Hafford Tear NJ, Klein P, Liskova P, Dulla K, Semo M, Vugler AA, Muthusamy K, Dudakova L, Levis HJ, Skalicka P, Hysi P, Cheetham ME, Tuft SJ, Adamson P, Hardcastle AJ, Davidson AE, Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity American journal of human genetics102:528-539 2018 |
| PubMed ID: 29526280 |
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| Gorbunova V, Seluanov A, Mittelman D, Wilson JH, Genome-wide demethylation destabilizes CTG.CAG trinucleotide repeats in mammalian cells. Hum Mol Genet13(23):2979-89 2004 |
| PubMed ID: 15459182 |
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| Michalowski S, Miller JW, Urbinati CR, Paliouras M, Swanson MS, Griffith J, Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein. Nucleic Acids Res27(17):3534-42 1999 |
| PubMed ID: 10446244 |
| Passage Frozen |
5 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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