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GM03987 Fibroblast from Skin, Arm

Description:

DYSTROPHIA MYOTONICA 1; DM1
DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK

Affected:

Yes

Sex:

Male

Age:

39 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
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source Fibroblast from Skin, Arm
Race White
Family Member 2
Relation to Proband brother
Confirmation Molecular characterization - other
Species Homo sapiens
Common Name Human
Remarks Distal weakness; clinical and electrical myotonia; cataracts; marked balding; see GM03986A Lymph; lymphoblast DNA studies showed expansion of CTG repeat is <1.5 kb detectable by Southern analysis corresponding to up to 500 CTG repeats

Characterizations

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PDL at Freeze 5.47
Passage Frozen 4
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 
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; clinical and electrical myotonia; cataracts; marked balding; see GM03986A Lymph; lymphoblast DNA studies showed expansion of CTG repeat is <1.5 kb detectable by Southern analysis corresponding to up to 500 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
 
Lee J, Li K, Zimmerman SC, A Selective Alkylating Agent for CTG Repeats in Myotonic Dystrophy Type 1 ACS chemical biology17:1103-1110 2022
PubMed ID: 35483041
 
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
 
Lee J, Bai Y, Chembazhi UV, Peng S, Yum K, Luu LM, Hagler LD, Serrano JF, Chan HYE, Kalsotra A, Zimmerman SC, Intrinsically cell-penetrating multivalent and multitargeting ligands for myotonic dystrophy type 1 Proceedings of the National Academy of Sciences of the United States of America116:8709-8714 2019
PubMed ID: 30975744
 
de Mezer M, Wojciechowska M, Napierala M, Sobczak K, Krzyzosiak WJ, Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference Nucleic acids research39:3852-63 2011
PubMed ID: 21247881
 
Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, Cooper TA, Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy Journal of cell science118:2923-33 2005
PubMed ID: 15961406
 
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
 
Savkur RS, Philips AV, Cooper TA, Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet29(1):40-7 2001
PubMed ID: 11528389

External Links

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dbSNP dbSNP ID: 10707
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 1:4
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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International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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