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

被引：0
|
作者：
Gao, Chunlai [1 ,2 ]
Yang, Xiaomeng [1 ,2 ]
Yang, Yanan [1 ,2 ]
Liu, Ning [1 ,2 ]
Li, Yue [1 ,2 ]
Liu, Yi [1 ,2 ,3 ]
Gai, Zhongtao [1 ,2 ,3 ]
机构：
[1] Shandong Univ, Childrens Hosp, Pediat Res Inst, Jinan 250022, Shandong, Peoples R China
[2] Jinan Childrens Hosp, Pediat Res Inst, Jinan 250022, Shandong, Peoples R China
[3] Jinan Childrens Hosp, Pediat Res Inst, Jinan 250022, Shandong, Peoples R China
来源：
STEM CELL RESEARCH | 2024年 / 76卷
关键词：
D O I：
10.1016/j.scr.2024.103356
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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.
引用
收藏
页数：4
相关论文
共 50 条
  • [31] Generation of induced pluripotent stem cell line from a patient with long COVID
    Wu, David
    Manhas, Amit
    Noishiki, Chikage
    Tripathi, Dipti
    Liu, Lu
    Turbes, Naima
    Thomas, Dilip
    Sallam, Karim
    Lee, Jason T.
    Sayed, Nazish
    STEM CELL RESEARCH, 2025, 83
  • [32] Derivation of an induced pluripotent stem cell line (PUMCHi003-A) from a patient with pulmonary arterial hypertension carrying heterozygous mutation in PTGIS gene
    Zhang, Si-Jin
    Lian, Tian-Yu
    Zhu, Xi-Jie
    Lu, Dan
    Xu, Xi-Qi
    Jiang, Xin
    Jing, Zhi-Cheng
    STEM CELL RESEARCH, 2020, 46
  • [33] Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation
    Zhang, Xiao
    Zhang, Dan
    Chen, Shang-Chih
    Lamey, Tina
    Thompson, Jennifer A.
    McLaren, Terri
    De Roach, John N.
    Chen, Fred K.
    McLenachan, Samuel
    STEM CELL RESEARCH, 2018, 31 : 147 - 151
  • [34] Generation of induced pluripotent stem cell line (XWHNi003-A) from a female with APOE gene mutation
    Gong, Jin
    Li, Shaoqi
    Sun, Wenxian
    Wang, Pin
    Han, Xiaodong
    Xu, Chang
    Chen, Yufei
    Yang, Yuting
    Luan, Heya
    Li, Ruina
    Wen, Boye
    Lv, Sirong
    Chen, Runqi
    Guo, Jinxuan
    Wei, Cuibai
    STEM CELL RESEARCH, 2024, 79
  • [35] Generation of induced pluripotent stem cell line (XWHNi002-A) from a female with APP gene mutation
    Sun, Wenxian
    Wang, Pin
    Gong, Jin
    Chen, Yufei
    Yang, Yuting
    Luan, Heya
    Li, Shaoqi
    Li, Ruina
    Wei, Cuibai
    STEM CELL RESEARCH, 2023, 71
  • [36] Reprogramming of a human induced pluripotent stem cell line from a long QT syndrome patient harboring a heterozygous mutation of c.1537C > T in SCN5A gene
    Chen, Jianan
    Song, Yesang
    Gu, Junqing
    Chen, Lian
    STEM CELL RESEARCH, 2021, 57
  • [37] Generation of heterozygous KCNA2 knockout induced pluripotent stem cell line
    Shan, Wei
    Cui, Xiaomeng
    Wang, Dayan
    Wang, Baiqiang
    Guo, Xiangge
    Wang, Xumeng
    Wang, Jiaxuan
    Li, Yanting
    An, Guipeng
    Ren, Qian
    STEM CELL RESEARCH, 2024, 81
  • [38] Generation of an induced pluripotent stem cell line HUSTTJi001-A from a Moyamoya disease patient with RNF213 gene mutation
    Mao, Zhijuan
    Li, Yunjie
    Huang, Liangjiang
    Chen, Yunqiang
    Luo, Hongmei
    Zhang, Suming
    Chen, Hong
    STEM CELL RESEARCH, 2021, 57
  • [39] Generation of an induced pluripotent stem cell line from a type 1 neurofibromatosis patient with NF1 mutation
    Xin, Hongmei
    Li, Yixiao
    Zhang, Kaihui
    Ji, Aihua
    Fan, Meili
    STEM CELL RESEARCH, 2024, 81
  • [40] Generation of an induced pluripotent stem cell line from a patient with Angelman syndrome carrying UBE3A mutation
    Li, Shasha
    Zhu, Qunyan
    Cai, Yaoyao
    Yang, Qian
    STEM CELL RESEARCH, 2022, 62
12345