Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation
Summary
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 developmental delay. An iPSC line (BBANTWi011-A) was generated started from peripheral blood mononuclear cells (PBMCs) from a patient carrying a homozygous variant in the IPO8 gene (MIM: 605600, NM_006390.3: c.1420C>T, p.(Arg474*)). PBMCs were reprogrammed using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). The generated iPSCs are expressing pluripotency markers and are able to differentiate into the three germ layers. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Van Gucht I, Buccioli L, Rabaut L, Fedoryshchenko I, Meester J, Van Laer L, Loeys B, Verstraeten A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Jun;69:103061 |
| PubMed | 36905820 |
| DOI | 10.1016/j.scr.2023.103061 |