Generation of a human TGFB3-hIPSC line, BBANTWi010-A, from a Loeys-Dietz syndrome type V patient
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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
|Authors||Perik M, Verstraeten A, Nijak-Paeske A, Rabaut L, Van Laer L, Loeys B|
|Journal||Stem cell research|
|Publication Date||2022 Oct 31;65:102956|