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Article

CTG repeat instability in a human embryonic stem cell line carrying the myotonic dystrophy type 1 mutation.

Molecular human reproduction - 1 Jul 2008

De Temmerman N, Seneca S, Van Steirteghem A, Haentjens P, Van der Elst J, Liebaers I, Sermon K D

Abstract excerpt

Human embryonic stem cells (hESC) are considered to be an indefinite source of self-renewing cells that can differentiate into all types of cells of the human body and could be used in regenerative medicine, drug discovery and as a model for studying early developmental biology. hESC carrying disease-causing mutations hold promise as a tool to investigate mechanisms involved in the pathogenesis of the disease. In...

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Source

Identifiers

PMID: 18577525
DOI: 10.1093/molehr/gan034

Genes

DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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CTG repeat instability in a human embryonic stem cell line carrying the myotonic dystrophy type 1 mutation.PMID 18577525Read ↗

Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instabilitySemantic proximity Read ↗

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.Semantic proximity Read ↗

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity.Semantic proximity Read ↗

DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.Semantic proximity Read ↗

De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.Semantic proximity Read ↗

Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1.Semantic proximity Read ↗

Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.Semantic proximity Read ↗

Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy.Semantic proximity Read ↗

Somatic instability of CTG repeat in myotonic dystrophy.Semantic proximity Read ↗

CCG interruptions are unstable and hypermethylated in DM1 patientsSemantic proximity Read ↗

Frequency and stability of the myotonic dystrophy type 1 premutation.Semantic proximity Read ↗

Deletion of the CTG Expansion in Myotonic Dystrophy Type 1 Reverses <i>DMPK</i> Aberrant Methylation in Human Embryonic Stem Cells but not Affected MyoblastsSemantic proximity Read ↗

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