Generation of an induced pluripotent stem cell line (SDQLCHi067-A) from a patient with subcortical band heterotopia harboring a heterozygous mutation in DCX gene
oleh: Chunlai Gao, Xiaomeng Yang, Yanan Yang, Ning Liu, Yue Li, Yi Liu, Zhongtao Gai
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2024-04-01 |
Deskripsi
Subcortical band heterotopia (SHB) is a rare severe brain developmental malformation caused by deficient neuronal migration during the development of cerebral cortex. Here, a human induced pluripotent stem cell (iPSCs) line was established from a 4-year-1-month-old girl with SHB carrying a heterozygous mutation (c.568A > G, p.K190E) in DCX. The generated iPSC line showed the ability to differentiate into three lineages in vitro and was confirmed by pluripotency markers and the original gene mutation.