Generation of one induced pluripotent cell (iPSC) line (BBANTWi011-A) from a patient carrying an IPO8 bi-allelic loss-of-function mutation

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 (R)-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). The generated iPSCs are expressing pluripotency markers and are able to differentiate into the three germ layers.

Jaar van publicatie:2023

Trefwoorden:A1 Journal article

Toegankelijkheid:Open