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Article

Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCs.

Human molecular genetics - 1 Dec 2018

Pólvora-Brandão Duarte, Joaquim Mariana, Godinho Inês, Aprile Domenico, Álvaro Ana Rita, Onofre Isabel, Raposo Ana Cláudia, Pereira de Almeida Luís, Duarte Sofia T, da Rocha Simão T

Abstract excerpt

The human chr15q11-q13 imprinted cluster is linked to several disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes. Recently, disease modeling approaches based on induced pluripotent stem cells (iPSCs) have been used to study these syndromes. A concern regarding the use of these cells for imprinted disease modeling is the numerous imprinting defects found in many iPSCs. Here, by reprogramming skin...

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Share to Angelman Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 15

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Share to Regulatory Elements, Transcriptional

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Source

Open in PubMed Open full text

Identifiers

PMID: 30102380
DOI: 10.1093/hmg/ddy274
PMCID: PMC6240739

Genes

MKRN3
NDN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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