National Regional Children's Medical Center (Northwest), Key Laboratory of Precision Medicine in Pediatric Diseases of Shaanxi Province, Xi'an Key Laboratory of Children's Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University. Xi'an, China.
Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.
Stem Cell Res. 2024 Oct;80:103513. doi: 10.1016/j.scr.2024.103513. Epub 2024 Jul 28.
Timothy syndrome, an extremely rare disease, is closely associated with a mutation in CACNA1C gene, which encodes the cardiac L-type voltage-gated calcium channel (Cav1.2). In this study, we generated a human induced pluripotent stem cell (iPSC) line from a Timothy syndrome infant carrying heterozygous CACNA1C mutation (transcript variant NM_000719.7c.1216G>A: p.G406R). The generated iPSC line showed typical stem cell morphology, positively expressed pluripotency and proliferation markers, normal karyotype, and trilineage differentiation potential. Therefore, this patient-specific iPSC can be of great significance in investigating the mechanisms underlying Timothy syndrome, and hence establishing effective intervention strategies.
Timothy 综合征是一种极其罕见的疾病，与 CACNA1C 基因突变密切相关，该基因编码心脏 L 型电压门控钙通道（Cav1.2）。在本研究中，我们从携带 CACNA1C 突变（转录变体 NM_000719.7c.1216G>A：p.G406R）的 Timothy 综合征婴儿中生成了一个人诱导多能干细胞（iPSC）系。生成的 iPSC 系表现出典型的干细胞形态，阳性表达多能性和增殖标志物，正常核型和三系分化潜能。因此，这种患者特异性的 iPSC 对于研究 Timothy 综合征的发病机制具有重要意义，并因此建立有效的干预策略。
