从一位携带 WFS1 c.2051C > T（p.Ala684Val）变异的听力损失患者中诱导产生多能干细胞（IBMSi027-A）。
Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant.
机构信息
Department of Otolaryngology, Taichung Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taichung, Taiwan; Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan.
Department of Otolaryngology, National Taiwan University Hospital, Taipei, Taiwan; Graduate Institute of Medical Genomics and Proteomics, National Taiwan University College of Medicine, Taipei, Taiwan.
出版信息
Stem Cell Res. 2023 Jun;69:103068. doi: 10.1016/j.scr.2023.103068. Epub 2023 Mar 16.
Pathogenic variants of the WFS1 gene can cause recessive-inherited Wolfram syndrome or dominant-inherited Wolfram-like syndrome with optic atrophy and hearing impairment. Using the Sendai virus delivery system, we generated induced pluripotent stem cells from the peripheral blood mononuclear cells of a female patient with the WFS1 pathogenic variant c.2051C > T (p.Ala684Val). The resulting induced pluripotent stem cells exhibited a normal karyotype and pluripotency, as confirmed using immunofluorescence staining, and differentiated into three germ layers in vivo. This cellular model provides a useful platform for investigating the pathogenic mechanisms of both blindness and deafness related to WFS1 variants.
WFS1 基因的致病变体可导致常染色体隐性遗传的 Wolfram 综合征或常染色体显性遗传的 Wolfram 样综合征，伴有视神经萎缩和听力损失。我们使用仙台病毒传递系统，从一位携带 WFS1 致病变体 c.2051C>T(p.Ala684Val)的女性患者外周血单核细胞中生成诱导多能干细胞。所得诱导多能干细胞表现出正常核型和多能性，这通过免疫荧光染色得到确认，并在体内分化为三个胚层。该细胞模型为研究与 WFS1 变体相关的失明和耳聋的致病机制提供了一个有用的平台。
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