Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Stem Cell Res. 2023 Jun;69:103061. doi: 10.1016/j.scr.2023.103061. Epub 2023 Mar 9.
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.
患者携带 IPO8 双等位基因功能丧失变异体具有高度一致的表型，类似于 Loeys-Dietz 综合征的表型。他们表现为早发性胸主动脉瘤（TAA）和结缔组织表现，如蜘蛛指（趾）和关节过度活动。其他常见的表型表现包括面部畸形、高拱形或腭裂/分叉悬雍垂和运动发育迟缓。从携带 IPO8 基因（MIM：605600，NM_006390.3：c.1420C>T，p.（Arg474*））纯合变异的患者外周血单核细胞（PBMC）中生成了一个 iPSC 系（BBANTWi011-A）。使用 Cytotune®-iPS 2.0 Sendai 重编程试剂盒（Invitrogen）对 PBMC 进行重编程。生成的 iPSC 表达多能性标志物，能够分化为三个胚层。
