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Article

Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome

18 Feb 2014

Abstract excerpt

Human telomeric regions are packaged as constitutive heterochromatin, characterized by extensive subtelomeric DNA methylation and specific histone modifications. ICF (immunodeficiency, centromeric instability, facial anomalies) type I patients carry mutations in DNA methyltransferase 3B (DNMT3B) that methylates de novo repetitive sequences during early embryonic development. ICF type I patient fibroblasts display...

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PMID: 24549038
DOI: 10.1093/hmg/ddu071

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Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndromePMID 24549038Read ↗

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The rescue of epigenomic abnormalities in ICF1 patient iPSCs following <i>DNMT3B</i> correction is incomplete at a residual fraction of H3K4me3-enriched regionsSemantic proximity Read ↗

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