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Article

Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.

Disease models & mechanisms - 1 Jan 2016

Si-Tayeb Karim, Idriss Salam, Champon Benoite, Caillaud Amandine, Pichelin Matthieu, Arnaud Lucie, Lemarchand Patricia, Le May Cédric, Zibara Kazem, Cariou Bertrand

Abstract excerpt

Proprotein convertase subtilisin kexin type 9 (PCSK9) is a critical modulator of cholesterol homeostasis. Whereas PCSK9 gain-of-function (GOF) mutations are associated with autosomal dominant hypercholesterolemia (ADH) and premature atherosclerosis, PCSK9 loss-of-function (LOF) mutations have a cardio-protective effect and in some cases can lead to familial hypobetalipoproteinemia (FHBL). However, limitations of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26586530
DOI: 10.1242/dmm.022277
PMCID: PMC4728336

Genes

PCSK9
LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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