Tongkobpetch Siraprapa, Rungsiwiwut Ruttachuk, Pruksananonda Kamthorn, Suphapeetiporn Kanya, Shotelersuk Vorasuk
Interdisciplinary Program of Biomedical Sciences, Graduate School, Chulalongkorn University, Bangkok 10330, Thailand; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok 10330, Thailand.
Human Embryonic Stem Cell Research Center, Reproductive Unit, Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand; Department of Anatomy, Faculty of Medicine, Srinakharinwirot University, Bangkok 10110, Thailand.
Stem Cell Res. 2019 Aug;39:101493. doi: 10.1016/j.scr.2019.101493. Epub 2019 Jun 29.
Two clones of human induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts isolated from a one-year-old Thai patient with X-linked osteogenesis imperfecta. The patient harbored a mutation, p.N459S, in the MBTPS2 gene. The cells were reprogrammed using an integration-free Sendai virus containing KLF4, c-MYC, OCT4 and SOX2. Both of the established iPSC lines (MDCUi001-A and MDCUi001-B) maintained normal karyotype, expressed pluripotent markers and differentiated into all three germ layers.
从一名患有X连锁成骨不全症的1岁泰国患者分离出的皮肤成纤维细胞中生成了两个人类诱导多能干细胞（iPSC）克隆。该患者在MBTPS2基因中存在一个p.N459S突变。使用含有KLF4、c-MYC、OCT4和SOX2的无整合仙台病毒对细胞进行重编程。两个已建立的iPSC系（MDCUi001-A和MDCUi001-B）均保持正常核型，表达多能性标志物并分化为所有三个胚层。
