从一名携带FGFR3 p.Pro250Arg突变的孟克综合征患者中生成人类诱导多能干细胞系（NIDCRi001-A）。
Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation.
作者信息
Mui Byron W H, Arora Deepika, Mallon Barbara S, Martinez Ariel F, Lee Janice S, Muenke Maximilian, Kruszka Paul, Kidwai Fahad K, Robey Pamela G
机构信息
Skeletal Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
NIH Stem Cell Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
出版信息
Stem Cell Res. 2020 Jul;46:101823. doi: 10.1016/j.scr.2020.101823. Epub 2020 May 19.
Muenke syndrome is the leading genetic cause of craniosynostosis and results in a variety of disabling clinical phenotypes. To model the disease and study the pathogenic mechanisms, a human induced pluripotent stem cell (hiPSC) line was generated from a patient diagnosed with Muenke syndrome. Successful reprogramming was validated by morphological features, karyotyping, loss of reprogramming factors, expression of pluripotency markers, mutation analysis and teratoma formation.
孟克综合征是导致颅缝早闭的主要遗传原因，并会引发多种致残性临床表型。为了建立该疾病模型并研究其致病机制，我们从一名被诊断患有孟克综合征的患者身上生成了一条人诱导多能干细胞（hiPSC）系。通过形态特征、核型分析、重编程因子的缺失、多能性标志物的表达、突变分析和畸胎瘤形成对成功重编程进行了验证。
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