从一名 4 个月大的严重杆状体肌病患者中生成了两个同基因诱导多能干细胞系，该患者携带 ACTA1 基因中的杂合显性 c.553C > A（p.Arg183Ser）变异。
Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene.
机构信息
Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia.
Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia; Centre for Medical Research, University of Western Australia, QEII Medical Centre, Nedlands, WA, Australia; Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA, Australia.
出版信息
Stem Cell Res. 2021 May;53:102273. doi: 10.1016/j.scr.2021.102273. Epub 2021 Feb 26.
Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of abnormal thread- or rod-like structures (nemaline bodies) in myofibres. Pathogenic variants in the skeletal muscle alpha actin gene, ACTA1, cause approximately 25% of all NM cases. We generated two induced pluripotent stem cell lines from lymphoblastoid cells of a 4-month-old female with severe NM harbouring a dominant variant in ACTA1 (c.553C > A). The isogenic lines displayed characteristic iPSC morphology, expressed pluripotency markers, differentiated into cells of all three germ layers, and possessed normal karyotypes. These lines could be useful models of human ACTA1 disease.
肌强直性营养不良（NM）是一种先天性肌病，其典型特征是骨骼肌无力和肌纤维中存在异常的线状或杆状结构（杆状体）。大约 25%的 NM 病例是由骨骼肌α肌动蛋白基因 ACTA1 的致病变异引起的。我们从一名 4 个月大的患有严重 NM 的女性的淋巴母细胞中生成了两条诱导多能干细胞系，该女性携带有 ACTA1 中的显性变异（c.553C > A）。这两条同源细胞系表现出特征性的 iPSC 形态，表达多能性标志物，分化为三个胚层的细胞，并且具有正常的核型。这些细胞系可能是人类 ACTA1 疾病的有用模型。
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