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Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation.

Stem cell research - 1 Jun 2023

Van Gucht Ilse, Buccioli Lucia, Rabaut Laura, Fedoryshchenko Ivanna, Meester Josephina, Van Laer Lut, Loeys Bart, Verstraeten Aline

Abstract excerpt

Patients carrying IPO8 bi-allelic loss-of-function variants have a highly consistent phenotype that resembles the phenotype of Loeys-Dietz syndrome. They present with early onset thoracic aortic aneurysm (TAA) and connective tissue findings such as arachnodactyly and joint hypermobility. Other recurrent phenotypic manifestations include facial dysmorphisms, a high arched or cleft palate/bifid uvula and motor...

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Identifiers

PMID: 36905820
DOI: 10.1016/j.scr.2023.103061

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