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GM23378 LCL from B-Lymphocyte

Description:

DYSTROPHIA MYOTONICA 1; DM1

Affected:

Yes

Sex:

Male

Age:

65 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
GeT-RM Samples
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity Not Hispanic/Latino
Ethnicity FRENCH/IRISH
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; mild phenotype; two affected children; onset of symptoms at age 50 years; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 80-90 in the DMPK gene

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
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 Clinically affected; mild phenotype; two affected children; onset of symptoms at age 50 years; donor subject has one normal CTG repeat allele and one allele with a CTG repeat size of approximately 80-90 in the DMPK gene

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
 
Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics13:3926-3935 2021
PubMed ID: 35394024
 
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
 
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
 
Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT, Toji L, Development of a Genomic DNA Reference Material Panel for Myotonic Dystrophy Type 1 (DM1) Genetic Testing The Journal of molecular diagnostics : JMD105:151-165 2012
PubMed ID: 23680132

External Links

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NCBI GTR 160900 MYOTONIC DYSTROPHY 1; DM1
OMIM 160900 MYOTONIC DYSTROPHY 1; DM1
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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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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