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GM03989 Fibroblast

Description:

DYSTROPHIA MYOTONICA 1; DM1
DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK

Affected:

Yes

Sex:

Male

Age:

38 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Muscular Dystrophies
Class Disorders of Connective Tissue, Muscle, and Bone
Class Disorders with Trinucleotide Expansions
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 3
Relation to Proband brother
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Distal weakness; frontal baldness; cataracts; clinical and electrical (EMG) myotonia; expansion of CTG repeat greater than or equal to 4.5 kb by Southern analysis corresponding to up to 2000 CTG repeats

Characterizations

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PDL at Freeze 4.5
Passage Frozen 4
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
CTG TRINUCLEOTIDE REPEAT EXPANSION ANALYSIS Mutational analysis of DNA from this subject with myotonic dystrophy performed by Dr. Robert G. Korneluk, Molecular Genetics Laboratory, Children's Hospital of Eastern Ontario, Canada, showed that the CTG trinucleotide repeat expansion length was greater than or equal to 4.5 kb determined by Southern blot analysis. This corresponds to up to 2000 CTG repeats.
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
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.

Phenotypic Data

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Remarks Distal weakness; frontal baldness; cataracts; clinical and electrical (EMG) myotonia; expansion of CTG repeat greater than or equal to 4.5 kb by Southern analysis corresponding to up to 2000 CTG repeats

Publications

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Asano K, Yoshimi K, Takeshita K, Mitsuhashi S, Kochi Y, Hirano R, Tingyu Z, Ishida S, Mashimo T, CRISPR Diagnostics for Quantification and Rapid Diagnosis of Myotonic Dystrophy Type 1 Repeat Expansion Disorders ACS synthetic biology13:3926-3935 2024
PubMed ID: 39565688
 
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
 
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 health18:438-448 2021
PubMed ID: 33917301
 
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
 
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
 
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ, Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS American journal of human genetics105:151-165 2019
PubMed ID: 31230722
 
Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M, Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data American journal of human genetics105:151-165 2017
PubMed ID: 30503517

External Links

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dbSNP dbSNP ID: 10708
Gene Cards DMPK
Gene Ontology GO:0004674 protein serine/threonine kinase activity
GO:0005524 ATP binding
GO:0006468 protein amino acid phosphorylation
GO:0006936 muscle contraction
GO:0016740 transferase activity
NCBI Gene Gene ID:1760
NCBI GTR 160900 MYOTONIC DYSTROPHY 1; DM1
605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK
OMIM 160900 MYOTONIC DYSTROPHY 1; DM1
605377 DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK
Omim Description DM PROTEIN KINASE, INCLUDED
  DYSTROPHIA MYOTONICA; DM
  DYSTROPHIA MYOTONICA; DMPK
  MYOTONIC DYSTROPHY
  MYOTONIC DYSTROPHY PROTEIN KINASE, INCLUDED; MDPK, INCLUDED
  MYOTONIN-PROTEIN KINASE, INCLUDED
  STEINERT DISEASEDM-KINASE, INCLUDED; DMK, INCLUDED

Culture Protocols

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Passage Frozen 4
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
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Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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