Université Paris Cité, Imagine Institute, INSERM U1163, iPS Core Facility, 75015 Paris, France.
Department of Pediatric Gastroenterology, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, F-75015 Paris, France.
Stem Cell Res. 2023 Apr;68:103057. doi: 10.1016/j.scr.2023.103057. Epub 2023 Feb 26.
Mutations in UNC45A, a co-chaperone for myosins, were recently found causative of a syndrome combining cholestasis, diarrhea, loss of hearing and bone fragility. We generated induced pluripotent stem cells (iPSCs) from a patient with a homozygous missense mutation in UNC45A. Cells from this patient, which were reprogrammed using integration-free Sendaï virus, have normal karyotype, express pluripotency markers and are able to differentiate into the three germ cell layers.
UNC45A 是肌球蛋白的共伴侣，UNC45A 的突变最近被发现是导致一种同时伴有胆汁淤积、腹泻、听力丧失和骨骼脆弱的综合征的原因。我们从一位 UNC45A 纯合错义突变的患者中生成了诱导多能干细胞（iPSC）。这位患者的细胞是使用无整合 Sendai 病毒重编程的，具有正常的核型，表达多能性标志物，并能够分化为三个胚层。
