RESUMO
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.
Assuntos
Células-Tronco Pluripotentes Induzidas , Células-Tronco Pluripotentes Induzidas/metabolismo , Leucócitos Mononucleares , Linhagem Celular , Mutação , Perda de HeterozigosidadeRESUMO
Marfan syndrome (MFS) is a connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular system. Ruptured aortic aneurysms in MFS patients are associated with high mortality rates. MFS is typically caused by pathogenic variants in the fibrillin-1 (FBN1) gene. Here, we report a generated induced pluripotent cell (iPSC) line of a MFS patient with a FBN1 c.5372G > A (p.Cys1791Tyr) variant. For that, skin fibroblasts of a MFS patient carrying a FBN1 c.5372G > A (p.Cys1791Tyr) variant were successfully reprogrammed into iPSCs using the CytoTune™-iPS 2.0 Sendai Kit (Invitrogen). The iPSCs showed a normal karyotype, expressed pluripotency markers, were able to differentiate into three germ layers and carried the original genotype.