Anzhen Hospital, Capital Medical University, Beijing 100029, China; Maternal-Fetal Medicine Centre in Fetal Heart Disease, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China.
Anzhen Hospital, Capital Medical University, Beijing 100029, China; Maternal-Fetal Medicine Centre in Fetal Heart Disease, Beijing Anzhen Hospital, Capital Medical University, Beijing 100029, China.
Stem Cell Res. 2024 Jun;77:103399. doi: 10.1016/j.scr.2024.103399. Epub 2024 Mar 24.
Tuberous Sclerosis Complex (TSC) is a severe developmental disorder with various clinical effects, primarily caused by TSC2 gene mutations, often involving loss of function(Henske,et al., 2016).To explore role of TSC2 in human heart development, we successfully developed a TSC2 knockout (TSC2-/-) human embryonic stem cells (hESCs) line using CRISPR/Cas9 gene editing. This TSC2-/- hESC line maintained a normal karyotype, expressed pluripotency markers strongly, and could differentiate into all three germ layers in vivo. This cell line will be a valuable tool for future research on the role of TSC2 in heart development.
结节性硬化症（TSC）是一种严重的发育障碍疾病，具有多种临床影响，主要由 TSC2 基因突变引起，常涉及功能丧失（Henske 等人，2016）。为了探索 TSC2 在人类心脏发育中的作用，我们成功地使用 CRISPR/Cas9 基因编辑技术开发了 TSC2 敲除（TSC2-/-）人类胚胎干细胞（hESC）系。该 TSC2-/-hESC 系保持正常核型，强烈表达多能性标记物，并能在体内分化为所有三个胚层。该细胞系将成为未来研究 TSC2 在心脏发育中作用的重要工具。
