Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, United States.
Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, United States.
Stem Cell Res. 2024 Aug;78:103449. doi: 10.1016/j.scr.2024.103449. Epub 2024 May 22.
The SORD neuropathy has been identified as the most common autosomal recessive inherited neuropathy, occurring in thousands of patients worldwide. Fibroblast lines from 3 different patients containing the c.753delG; p.Ala253GlnfsTer27 SORD mutations were reprogrammed into induced Pluripotent Stem Cell (iPSC) lines. These iPSC lines demonstrate an apparent normal karyotype and have positive expression of pluripotency markers. These iPSC lines also stain positively for Ectoderm, Endoderm and Mesoderm markers following Embryoid body differentiation. These lines pose to serve as a valuable disease modeling resource for studying the SORD neuropathy, including studying disease phenotype and treatment efficacy.
SORD 神经病已被确定为最常见的常染色体隐性遗传性神经病,在全球数千名患者中发生。包含 c.753delG;p.Ala253GlnfsTer27 SORD 突变的 3 位不同患者的成纤维细胞系被重新编程为诱导多能干细胞 (iPSC) 系。这些 iPSC 系表现出明显的正常核型,并具有多能性标志物的阳性表达。这些 iPSC 系在胚状体分化后也对外胚层、内胚层和中胚层标志物呈阳性染色。这些系可能成为研究 SORD 神经病的有价值的疾病建模资源,包括研究疾病表型和治疗效果。