Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China.
Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China; Digestive Department, Children's Hospital Affiliated to Shandong University, Jinan 250022, China.
Stem Cell Res. 2024 Oct;80:103505. doi: 10.1016/j.scr.2024.103505. Epub 2024 Jul 20.
Johanson-Blizzard syndrome (JBS) is an autosomal recessive disorder. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 2-year-old boy with Johanson-Blizzard syndrome carrying a compound heterozygous mutation of c.3167C>G (p.S1056X) and c.1911 + 14C>G(splicing) in the UBR1 gene. This iPSC line was free of exogenous gene, expressed stemness markers, exhibited differentiation potential, had normal karyotype and harbored the same mutations found in the patient. The iPSC cellline can serve as a disease model in drug development and novel personalized therapies.
约曼逊-布莱克本综合征（JBS）是一种常染色体隐性遗传病。我们从一位 2 岁男孩的外周血单核细胞中建立了一个诱导多能干细胞（iPSC）系，该男孩患有 UBR1 基因复合杂合突变 c.3167C>G（p.S1056X）和 c.1911+14C>G（剪接），导致 JBS。该 iPSC 系无外源基因，表达干细胞标志物，具有分化潜能，核型正常，并携带患者体内发现的相同突变。该 iPSC 细胞系可作为药物开发和新型个体化治疗的疾病模型。
