Regenerative Medicine Program, Bellvitge Institute for Biomedical Research (IDIBELL) and Program for Clinical Translation of Regenerative Medicine in Catalonia (P-CMRC), 08908 L'Hospitalet de Llobregat, Spain.
Plataforma de Terapias Avanzadas. Banc de Sang i Teixits, Edifici Dr. Frederic Duran i Jordà, Passeig Taulat, 116, 08005 Barcelona, Spain.
Stem Cell Res. 2022 Oct;64:102906. doi: 10.1016/j.scr.2022.102906. Epub 2022 Sep 3.
Germline SAMD9 mutations are one of the most common alterations that predispose to pediatric myelodysplastic syndrome (MDS), a clonal disorder characterized by ineffective hematopoiesis, increasing the risk of developing acute myeloid leukemia (AML). Up to date, a disease model to study the role of SAMD9 mutation in MDS is still lacking. Here, we have generated a human induced pluripotent stem cell (hiPSC) line carrying SAMD9 (p.I1567M), taking advantage of CRISPR/Cas9 system. As a result, the genetic engineered hiPSC line represent a new in vitro disease model to understand the impact of SAMD9 mutation at molecular and cellular level during hematopoiesis.
胚系 SAMD9 突变是导致儿童骨髓增生异常综合征（MDS）的最常见改变之一，MDS 是一种克隆性疾病，其特征为无效造血，增加了发展为急性髓系白血病（AML）的风险。迄今为止，仍然缺乏用于研究 SAMD9 突变在 MDS 中的作用的疾病模型。在这里，我们利用 CRISPR/Cas9 系统，生成了携带 SAMD9（p.I1567M）突变的人诱导多能干细胞（hiPSC）系。结果，遗传工程化的 hiPSC 系代表了一种新的体外疾病模型，可在造血过程中从分子和细胞水平上了解 SAMD9 突变的影响。
