Balez Rachelle, Berg Tracey, Bax Monique, Muñoz Sonia Sanz, Cabral-da-Silva Mauricio C, Engel Martin, Do-Ha Dzung, Stevens Claire H, Rowe Dominic, Yang Shu, Blair Ian P, Ooi Lezanne
Illawarra Health and Medical Research Institute, Wollongong, NSW 2522, Australia; School of Chemistry and Molecular Bioscience, University of Wollongong, Wollongong, NSW 2522, Australia.
Centre for Motor Neuron Disease Research, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW, Australia.
Stem Cell Res. 2020 Jan;42:101701. doi: 10.1016/j.scr.2020.101701. Epub 2020 Jan 16.
Dermal fibroblasts were donated by a 43 year old male patient with clinically diagnosed familial amyotrophic lateral sclerosis (ALS), carrying the SOD1 mutation. The induced pluripotent stem cell (iPSC) line UOWi007-A was generated using repeated mRNA transfections for pluripotency transcription factors Oct4, Klf4, Sox2, c-Myc, Lin28 and Nanog. The iPSCs carried the SOD1 genotype and had a normal karyotype, expressed expected pluripotency markers and were capable of in vitro differentiation into endodermal, mesodermal and ectodermal lineages. This iPSC line may be useful for investigating familial ALS resulting from a SOD1 mutation.
皮肤成纤维细胞由一名43岁临床诊断为家族性肌萎缩侧索硬化症（ALS）且携带SOD1突变的男性患者捐赠。诱导多能干细胞（iPSC）系UOWi007-A通过对多能性转录因子Oct4、Klf4、Sox2、c-Myc、Lin28和Nanog进行重复mRNA转染而产生。这些诱导多能干细胞携带SOD1基因型，具有正常核型，表达预期的多能性标志物，并能够在体外分化为内胚层、中胚层和外胚层谱系。该诱导多能干细胞系可能有助于研究由SOD1突变导致的家族性ALS。
