Abstract：
Gaucher disease (GD) is a common lysosomal storage disease resulting from mutations in the glucocerebrosidase (GBA1) gene. This genetic disorder manifests with symptoms affecting multiple organs, yet the underlying mechanisms leading to pathology remain elusive. In this study, we successfully generated the MUi030-A human induced pluripotent stem cell (hiPSC) line using a non-integration method from a male type-3 GD patient with a homozygous c.1448T>C (L444P) mutation. These hiPSCs displayed a normal karyotype and pluripotency markers and the remarkable ability to differentiate into cells representing all three germ layers. This resourceful model holds significant promise for illuminating GD\'s underlying pathogenesis.
摘要：
戈谢病（GD）是一种常见的溶酶体贮积病，由葡萄糖脑苷脂酶（GBA1）基因突变引起。这种遗传性疾病表现为影响多个器官的症状，然而，导致病理的潜在机制仍然难以捉摸。在这项研究中,我们使用非整合方法从一名男性3型GD患者中成功产生MUi030-A人诱导多能干细胞(hiPSC)细胞系,该细胞系具有纯合c.1448T>C(L444P)突变.这些hiPSC表现出正常的核型和多能性标记以及分化成代表所有三个胚层的细胞的显著能力。这个足智多谋的模型对阐明GD的潜在发病机制具有重要的前景。
