从一名因MITF突变导致Ⅱ型瓦登伯格综合征的患者建立诱导多能干细胞系（CSUXHi003-A）。
Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation.
作者信息
Wen Jie, Song Jian, He Chufeng, Ling Jie, Liu Yalan, Chen Hongsheng, Gong Wei, Mei Lingyun, Feng Yong
机构信息
Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Province Key Laboratory of Otolaryngology Critical Diseases, Changsha 410008, Hunan, China; National Clinical Research Centre for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Institute of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha, China; Hunan Key Laboratory of Molecular Precision Medicine, Changsha, China.
出版信息
Stem Cell Res. 2021 Mar;51:102157. doi: 10.1016/j.scr.2021.102157. Epub 2021 Jan 9.
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural deafness. It has a variable presentation of pigmentation defects. Here, we generated an induced pluripotent stem cell (iPSC) line using episomal plasmid vectors from the fibroblasts of a 4-year-old boy affected with WS type II, caused by a novel mutation in microphthalmia-associated transcription factor (MITF) (NM_000248.3: exon6:c.626A>T). The patient-specific iPSC line (CSUXHi003-A) carrying the same MITF mutation showed normal karyotype, expressed pluripotent markers, and presented differentiation capacity in vitro. It may be a useful tool for in vitro modeling of WS.
瓦登伯革氏综合征（WS）是一种以感音神经性耳聋为特征的遗传性疾病。它具有色素沉着缺陷的多种表现形式。在此，我们使用来自一名4岁患有II型WS男孩的成纤维细胞，通过游离质粒载体生成了诱导多能干细胞（iPSC）系，该男孩的疾病由小眼相关转录因子（MITF）的一个新突变（NM_000248.3：外显子6：c.626A>T）引起。携带相同MITF突变的患者特异性iPSC系（CSUXHi003-A）显示出正常的核型，表达多能性标志物，并在体外具有分化能力。它可能是用于WS体外建模的有用工具。
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