从一位 1 个月大的先天性肌营养不良症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 基因中的纯合隐性 c.121C > T（p.Arg39Ter）变异。
Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) 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. 2022 Aug;63:102830. doi: 10.1016/j.scr.2022.102830. Epub 2022 Jun 6.
Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblastoid cells of a 1-month-old male with severe NM caused by a homozygous recessive mutation in the ACTA1 gene (c.121C > T, p.Arg39Ter). The iPSC lines demonstrated typical morphology, expressed pluripotency markers, exhibited trilineage differentiation potential and displayed a normal karyotype. These isogenic lines represent a potential resource to investigate and model recessive ACTA1 disease in a human context.
先天性肌营养不良症（NM）是一种先天性骨骼肌疾病，通常导致肌肉无力和肌纤维的肌浆或/和核内出现杆状结构（杆状体）。我们从一名 1 个月大的男性的淋巴母细胞中生成了两个诱导多能干细胞（iPSC）系，该男性患有由 ACTA1 基因（c.121C>T，p.Arg39Ter）纯合隐性突变引起的严重 NM。这些 iPSC 系表现出典型的形态，表达多能性标记物，具有三系分化潜能，并显示正常核型。这些同基因系代表了在人类背景下研究和模拟隐性 ACTA1 疾病的潜在资源。
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