从一位携带 AIFM1 p.R422Q 突变的听觉神经病患者中诱导生成人多能干细胞系（CPGHi003-A）。
Generation of a human induced pluripotent stem cell line (CPGHi003-A) from an auditory neuropathy patient with AIFM1 p.R422Q mutation.
机构信息
College of Otolaryngology, Head and Neck Surgery, Department of Audiology and Vestibular Medicine, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China.
College of Otolaryngology, Head and Neck Surgery, Department of Audiology and Vestibular Medicine, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China; National Clinical Research Center for Otolaryngologic Diseases, Chinese PLA General Hospital, 28 Fuxing Road, 100853 Beijing, China.
出版信息
Stem Cell Res. 2021 May;53:102376. doi: 10.1016/j.scr.2021.102376. Epub 2021 Apr 29.
AIFM1 is the most common gene related to late-onset Auditory Neuropathy (AN), which is characterized by a main manifestation of impaired speech comprehension. By using a nonintegrating plasmid delivery system, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood cells of a male patient from the family carrying the X-linked AIFM1 p.R422Q mutation. The resulting iPSCs had a normal karyotype, showed pluripotency by immunofluorescence staining, and differentiated into the three germ layers in vitro. This cellular model will provide a useful platform for investigating the pathogenic mechanisms of AIFM1-related AN, further laying the foundation for clinical treatment in humans.
AIFM1 是与迟发性听觉神经病（AN）最相关的基因，其主要表现为言语理解受损。我们使用非整合质粒递送系统，从携带 X 连锁 AIFM1 p.R422Q 突变的家系中男性患者的外周血中生成诱导多能干细胞（iPSC）。得到的 iPSC 具有正常核型，通过免疫荧光染色显示多能性，并在体外分化为三个胚层。该细胞模型将为研究 AIFM1 相关 AN 的发病机制提供一个有用的平台，进一步为人类临床治疗奠定基础。
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