Generation of an induced pluripotent stem cell line (SDQLCHi067-A) from a patient with subcortical band heterotopia harboring a heterozygous mutation in DCX gene

Chunlai Gao; Xiaomeng Yang; Yanan Yang; Ning Liu; Yue Li; Yi Liu; Zhongtao Gai

doi:10.1016/j.scr.2024.103356

Generation of an induced pluripotent stem cell line (SDQLCHi067-A) from a patient with subcortical band heterotopia harboring a heterozygous mutation in DCX gene

Stem Cell Res. 2024 Apr:76:103356. doi: 10.1016/j.scr.2024.103356. Epub 2024 Feb 22.

Authors

Chunlai Gao¹, Xiaomeng Yang¹, Yanan Yang¹, Ning Liu¹, Yue Li¹, Yi Liu², Zhongtao Gai³

Affiliations

¹ Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China.
² Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China. Electronic address: [email protected].
³ Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China; Pediatric Research Institute, Jinan Children's Hospital, Jinan, Shandong 250022, China. Electronic address: [email protected].

PMID: 38402847
DOI: 10.1016/j.scr.2024.103356

Abstract

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.

MeSH terms

Cerebral Cortex
Classical Lissencephalies and Subcortical Band Heterotopias* / genetics
Classical Lissencephalies and Subcortical Band Heterotopias* / metabolism
Female
Heterozygote
Humans
Induced Pluripotent Stem Cells* / metabolism
Infant
Mutation / genetics