NA04033
DNA from Fibroblast
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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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2
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Relation to Proband
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father
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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 |
4.67 |
| Passage Frozen |
4 |
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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 |
Temporal atrophy; clinical myotonia; distal weakness; see GM04034B Lymph; proband is GM03697B Lymph; lymph DNA studies showed CTG repeat is 1.5 to 3.0 kb detectable by Southern analysis corresponding to up to 1000 CTG repeats |
| Rogalska Z, Sobczak K, Sustainable recovery of MBNL activity in autoregulatory feedback loop in myotonic dystrophy Molecular therapy Nucleic acids30:438-448 2022 |
| PubMed ID: 36420218 |
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| Eltahir MK, Nakamori M, Hattori S, Kimura T, Mochizuki H, Nagano S, Pharmacotherapy alleviates pathological changes in human direct reprogrammed neuronal cell model of myotonic dystrophy type 1 PloS one17:e0269683 2021 |
| PubMed ID: 35776705 |
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| Konieczny P, Mukherjee S, Stepniak-Konieczna E, Taylor K, Niewiadomska D, Piasecka A, Walczak A, Baud A, Dohno C, Nakatani K, Sobczak K, Cyclic mismatch binding ligands interact with disease-associated CGG trinucleotide repeats in RNA and suppress their translation Nucleic acids research17:e0269683 2021 |
| PubMed ID: 34358321 |
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| Mateus T, Almeida I, Costa A, Viegas D, Magalhães S, Martins F, Herdeiro MT, da Cruz E Silva OAB, Fraga C, Alves I, Nunes A, Rebelo S, Fourier-Transform Infrared Spectroscopy as a Discriminatory Tool for Myotonic Dystrophy Type 1 Metabolism: A Pilot Study International journal of environmental research and public health18:e0269683 2021 |
| PubMed ID: 33917301 |
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| Neault N, O'Reilly S, Baig AT, Plaza-Diaz J, Azimi M, Farooq F, Baird SD, MacKenzie A, High-throughput kinome-RNAi screen identifies protein kinase R activator (PACT) as a novel genetic modifier of CUG foci integrity in myotonic dystrophy type 1 (DM1) PloS one16:e0256276 2020 |
| PubMed ID: 34520479 |
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| Stepniak-Konieczna E, Konieczny P, Cywoniuk P, Dluzewska J, Sobczak K, AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1 Nucleic acids research16:e0256276 2020 |
| PubMed ID: 31965181 |
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| Leferink M, Wong DPW, Cai S, Yeo M, Ho J, Lian M, Kamsteeg EJ, Chong SS, Haer-Wigman L, Guan M, Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test Scientific reports9:8280 2019 |
| PubMed ID: 31164682 |
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| Zhang W, Wang Y, Dong S, Choudhury R, Jin Y, Wang Z, Treatment of type 1 myotonic dystrophy by engineering site-specific RNA endonucleases that target (CUG)(n) repeats Molecular therapy : the journal of the American Society of Gene Therapy22:312-320 2013 |
| PubMed ID: 24196578 |
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| O'Leary DA, Vargas L, Sharif O, Garcia ME, Sigal YJ, Chow SK, Schmedt C, Caldwell JS, Brinker A, Engels IH, HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1 Current chemical genomics4:9-18 2009 |
| PubMed ID: 20502647 |
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