从一名 10 岁典型杆状体肌病患者中生成两个同源诱导多能干细胞系，该患者携带 ACTA1 基因中的杂合显性 c.541G>A (p.Asp179Asn) 致病性变异。
Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic 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 Aug;55:102482. doi: 10.1016/j.scr.2021.102482. Epub 2021 Jul 29.
Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of nemaline bodies in myofibres. Approximately 25% of NM cases are caused by variants in ACTA1. We generated two induced pluripotent stem cell lines from lymphoblastoid cells of a 10-year-old female with typical NM harbouring a dominant pathogenic variant in ACTA1 (c.541C>A). The isogenic lines displayed typical iPSC morphology, expressed pluripotency markers, and could differentiate into each of the three germ layers. Although the lines have partial or complete X chromosome duplication, they may still prove useful as models of human ACTA1 disease.
先天性肌病伴肌纤维中央核（NM）是一种先天性肌病，其典型特征为骨骼肌无力和肌纤维中存在中央核。大约 25%的 NM 病例是由 ACTA1 中的变异引起的。我们从一位 10 岁患有典型 NM 的女性的淋巴母细胞中生成了两条诱导多能干细胞系，该患者携带 ACTA1 中的显性致病变异（c.541C>A）。这两条同源细胞系显示出典型的 iPSC 形态，表达多能性标记物，并能分化为三个胚层中的每一个。尽管这些细胞系存在部分或完全的 X 染色体重复，但它们仍可能作为人类 ACTA1 疾病的模型而具有重要意义。
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