Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Department of Neurology, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan University, Shanghai, China.
Stem Cell Res. 2024 Apr;76:103347. doi: 10.1016/j.scr.2024.103347. Epub 2024 Feb 15.
Gordon Holmes Syndrome (GDHS) is a hereditary neurodegenerative disease mainly associated with mutations of RNF216. We established a human induced pluripotent stem cell (hiPSC) line, FDHSi003-A, derived from PBMC of a patient baring a mutation of RNF216 c.1948G > T, who shows typical symptoms of GDHS. The generated FDHSi003-A expresses pluripotency markers, displays a normal karyotype, and has the potency to differentiate into all three germ layers. Thus, FDHSi003-A is an ideal model to investigate the mechanism of RNF216 in GDHS.
戈登霍姆斯综合征（GDHS）是一种主要与 RNF216 突变相关的遗传性神经退行性疾病。我们建立了一个源自携带 RNF216 c.1948G>T 突变的患者外周血单个核细胞的人诱导多能干细胞（hiPSC）系 FDHSi003-A，该患者表现出 GDHS 的典型症状。生成的 FDHSi003-A 表达多能性标记物，具有正常核型，并具有分化为三个胚层的能力。因此，FDHSi003-A 是研究 RNF216 在 GDHS 中的作用机制的理想模型。
