Generation of two human induced pluripotent stem cell lines from patient-derived fibroblasts with severe congenital defects of the vertebrae and neural tube

作者：Jin A Lee, J. Vanessa Conrad, Margaret Rusteika, Tarek H Drissi, T. Zhang, Shiying Liu, Saumyaa Singla, Lian Willetts, Cameron Semper, Derrick E. Rancourt, Li‐Fang Chu · 发表于：Stem Cell Research · 年份：2025 · DOI：10.1016/j.scr.2025.103837 · 研究领域：Pluripotent Stem Cells Research、Biomedical Ethics and Regulation

Severe congenital defects of the vertebrae and neural tube arise from complex genetic, environmental, and nutritional factors during early pregnancy. Despite extensive research, the root causes of these conditions remain poorly understood. To establish patient-specific research resources, we generated two induced pluripotent stem cell (iPSC) lines from fibroblasts of patients with vertebral malformation and anencephaly. Both lines exhibit normal karyotypes and confirmed pluripotency through qPCR, immunofluorescence, differentiation into lineage-specific progenitors in vitro, and teratoma formation in mice. We anticipate that these iPSC lines will serve as valuable tools for investigating the mechanisms underlying abnormal vertebral and neural tube development.