Generation and validation of an iPSC line (BBANTWi008-A) from a Loeys-Dietz Syndrome type 3 patient


Loeys-Dietz Syndrome (LDS) is an autosomal dominant connective tissue disorder. The major hallmark of LDS is thoracic aortic aneurysm and dissection (TAAD). We generated an induced pluripotent stem cell (iPSC) line of a severely affected LDS patient carrying a pathogenic SMAD3 p.Arg287Gln variant. Peripheral blood mononuclear cells were reprogrammed using non-integrating Sendai viral vectors. The autonomous pluripotency state of the resulting iPSC model was proven by the presence of pluripotency markers, trilineage differentiation potential and absence of the Sendai vector backbone. This iPSC line can be used to study and/or therapeutically target the cellular pathomechanisms of SMAD3-related LDS. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Velchev JD, Verstraeten A, Meester J, Ponsaerts P, Richer J, Alaerts M, Loeys B
Journal Stem cell research
Publication Date 2022 Oct;64:102932
PubMed 36219981
DOI 10.1016/j.scr.2022.102932

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