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Article

Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.

Nature medicine - 1 Dec 2016

Zeltner Nadja, Fattahi Faranak, Dubois Nicole C, Saurat Nathalie, Lafaille Fabien, Shang Lei, Zimmer Bastian, Tchieu Jason, Soliman Mohamed A, Lee Gabsang, Casanova Jean-Laurent, Studer Lorenz

Abstract excerpt

Familial dysautonomia (FD) is a debilitating disorder that affects derivatives of the neural crest (NC). For unknown reasons, people with FD show marked differences in disease severity despite carrying an identical, homozygous point mutation in IKBKAP, encoding IκB kinase complex-associated protein. Here we present disease-related phenotypes in human pluripotent stem cells (PSCs) that capture FD severity. Cells...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27841875
DOI: 10.1038/nm.4220
PMCID: PMC5555047

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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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