A familiar cerebral cavernous malformations (FCCMs) patient with CCM1 deletion-frameshift mutation generates an induced pluripotent stem cell line (NFHHMUi001-A)

[摘要] Cerebral cavernous malformations (CCMs) is a common vascular malformation in the central nervous system (Flemming and Lanzino, 2020). Most of CCMs are sporadic, while FCCMs are considered a rare disease (Idiculla et al., 2019). FCCMs patients commonly experience seizures, headache, intracranial hemorrhage and focal neurologic deficits (Flemming and Lanzino, 2020; Snellings et al., 2021). Pathologically, in FCCMs lesions, cerebral hemorrhage can be triggered by irregular vascular leakage caused by frequently enlarged vessels without tight endothelial cell junctions and vesicular smooth muscle (Snellings et al., 2021; Zafar et al., 2020). As efficient gene sequencing applied in the diagnosis of FCCM, CCM1, CCM2, and CCM3 are reported to be oncogenes in FCCMs, and CCM1/KRIT1 mutations may cause over half of hereditary CCMs patients (Zhang et al., 2020).

[学科分类] 生理学