Science and Technology Service Platform, Qilu University of Technology (Shandong Academy of Sciences), Ji'nan, Shandong, China; Department of Rheumatology and Immunology, Children's Hospital Affiliated to Shandong University, Ji'nan, Shandong, China.
Department of Rheumatology and Immunology, Children's Hospital Affiliated to Shandong University, Ji'nan, Shandong, China.
Stem Cell Res. 2023 Oct;72:103217. doi: 10.1016/j.scr.2023.103217. Epub 2023 Sep 25.
A human induced pluripotent stem cell (iPSC) line (SDASi001-A) was generated from patient with Schimke immune-osseous dysplasia (SIOD), carrying heterozygous mutations in SMARCAL1 gene. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using non-integrating delivery of OCT4, SOX2, KFL4, BCL-XL and c-MYC. The iPSC line expresses pluripotency markers, displays a normal karyotype, and has the ability to differentiate into cells of three germ layers in vitro. This iPSC line represents a valuable cell model for SIOD in humans.
人诱导多能干细胞（iPSC）系（SDASi001-A）是从患有 Schimke 免疫骨发育不良（SIOD）的患者中产生的，该患者携带 SMARCAL1 基因的杂合突变。使用 OCT4、SOX2、KFL4、BCL-XL 和 c-MYC 的非整合递送对外周血单核细胞（PBMC）进行重编程。该 iPSC 系表达多能性标志物，显示正常核型，并具有在体外分化为三个胚层细胞的能力。该 iPSC 系代表了人类 SIOD 的一种有价值的细胞模型。
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