Generation of a human TGFB3-hIPSC line, BBANTWi010-A, from a Loeys-Dietz syndrome type V patient.

Abstract

Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder presenting with a variety of cardiovascular, skeletal, craniofacial and cutaneous manifestations. Aortic rupture or dissection of a thoracic aortic aneurysm (TAA) is the most life-threatening complication. We generated a an iPSC line from peripheral mononuclear blood cells of a TAA-presenting Loeys-Dietz syndrome type V patient with a causal, heterozygous variant in the TGFB3 gene (MIM* 190230, NM_003239.4:c.787G > C, p.(Asp263His)). The iPSCs present with the typical iPSC morphology, express pluripotency markers, have a normal karyotype and possess tri-lineage differentiation capability.

• Authors: Melanie Perik, Aline Verstraeten, Aleksandra Nijak-Paeske, Laura Rabaut, Lut Van Laer, Bart Loeys
• Journal: Stem cell research (Stem Cell Res) Vol. 65 Pg. 102956 (12 2022) ISSN: 1876-7753 [Electronic] England
• PMID: 36356561 (Publication Type: Journal Article)
• Copyright: Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Chemical References

• TGFB3 protein, human
• Transforming Growth Factor beta3

Topics

• Humans
• Loeys-Dietz Syndrome (genetics)
• Transforming Growth Factor beta3