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.
Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China; Changsha Central Hospital affiliated to University of South China, Changsha 410004, China.
Stem Cell Res. 2021 May;53:102300. doi: 10.1016/j.scr.2021.102300. Epub 2021 Mar 18.
Waardenburg Syndrome (WS) is a common autosomal dominant syndrome associated with hearing loss. Its clinical manifestations include hearing impairment and pigmentation anomalies. In this study, we generated an induced pluripotent stem cell (iPSC) line from the Epstein-Barr virus-immortalized B lymphocytes of a 6-year-old boy affected with WS type I, caused by a heterozygous splice site mutation in the PAIRED BOX GENE 3 (PAX3) (NM_181457.3: c.452-2A > G). The patient-specific iPSC line (CSUXHi004-A) carrying the same PAX3 mutation showed a normal karyotype, expressed pluripotent markers, and presented differentiation capacity in vitro. This method may be a useful tool for the in vitro modeling of WS.
瓦登堡综合征（WS）是一种常见的常染色体显性遗传综合征，与听力损失有关。其临床表现包括听力障碍和色素异常。在本研究中，我们从一名 6 岁男孩的永生化 EBV-B 淋巴细胞中产生了诱导多能干细胞（iPSC）系，该男孩患有 WS Ⅰ型，由 PAIRED BOX GENE 3（PAX3）（NM_181457.3：c.452-2A > G）杂合剪接位点突变引起。携带相同 PAX3 突变的患者特异性 iPSC 系（CSUXHi004-A）具有正常核型，表达多能标记物，并具有体外分化能力。该方法可能是 WS 体外建模的有用工具。
