Generation of a human TGFB3-hIPSC line, BBANTWi010-A, from a Loeys-Dietz syndrome type V patient
Summary
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 Dec;65:102956 |
| PubMed | 36356561 |
| DOI | 10.1016/j.scr.2022.102956 |