Generation and characterization of a human induced pluripotent stem cell line heterozygous for a NOTCH1 mutation (NCHi014-A)

被引：1
|
作者：
Aljuhani, Mona [1 ]
Choudhury, Talita Z. [1 ]
Yu, Yang [1 ]
Ye, Shiqiao [1 ]
Zhao, Mingtao [3 ,4 ]
Garg, Vidu [1 ,2 ,3 ,4 ,5 ,6 ,7 ]
机构：
[1] Nationwide Childrens Hosp, Abigail Wexner Res Inst, Ctr Cardiovasc Res, Columbus, OH USA
[2] Ohio State Univ, Biomed Sci Grad Program, Columbus, OH 43221 USA
[3] Ohio State Univ, Mol Cellular Dev Biol Grad Program, Columbus, OH USA
[4] Nationwide Childrens Hosp, Heart Ctr, Columbus, OH 43054 USA
[5] Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA
[6] Ohio State Univ, Dept Mol Genet, Columbus, OH 43210 USA
[7] Nationwide Childrens Hosp, 700 Childrens Dr WB4275, Columbus, OH 43205 USA
来源：
STEM CELL RESEARCH | 2024年 / 74卷
关键词：
D O I：
10.1016/j.scr.2023.103281
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
NOTCH1 signaling is crucial for cardiovascular development. Numerous studies have identified heterozygous NOTCH1 loss of function and missense variants associated with a spectrum of congenital heart diseases (CHD). We generated induced pluripotent stem cells (iPSC) from a healthy individual to develop a model for NOTCH1+/-iPSC to study the molecular pathogenesis of CHD. NOTCH1+/-iPSC (NCHi014-A) have normal morphology and karyotype, are identical to the parental cell line, express pluripotency markers and have the ability to differentiate to the three germ layers. NOTCH1+/-iPSC can be used as a tool to study the cellular and molecular mechanisms underlying NOTCH1-associated human CHD.
引用
收藏
页数：5
相关论文
共 50 条
  • [41] Generation of induced pluripotent stem cell line (MIPTi002-A) derived from a patient with a heterozygous type mutation in the CDC73 gene
    Alsalloum, Almaqdad
    Asaad, Walaa
    Krupinova, Julia
    Kegeles, Evgenii
    Sirotkina, Polina
    Panova, Alexandra
    Mityaeva, Olga
    Volchkov, Pavel
    STEM CELL RESEARCH, 2024, 75
  • [42] Generation of an induced pluripotent stem cell line (SDQLCHi067-A) from a patient with subcortical band heterotopia harboring a heterozygous mutation in DCX gene
    Gao, Chunlai
    Yang, Xiaomeng
    Yang, Yanan
    Liu, Ning
    Li, Yue
    Liu, Yi
    Gai, Zhongtao
    STEM CELL RESEARCH, 2024, 76
  • [43] Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene
    Ferreira, Anita
    Calado, Sofia M.
    Jorge, Xavier
    de Lange, Job
    Carvalhal, Sara
    STEM CELL RESEARCH, 2024, 81
  • [44] Generation of a human induced pluripotent stem cell line derived from a patient with dilated cardiomyopathy carrying LMNA nonsense mutation
    Shimoda, Yuzuno
    Murakoshi, Nobuyuki
    Mori, Haruka
    Xu, DongZhu
    Tajiri, Kazuko
    Hemmi, Yasuko
    Sato, Iori
    Noguchi, Michiya
    Nakamura, Yukio
    Hayashi, Yohei
    Ieda, Masaki
    STEM CELL RESEARCH, 2022, 62
  • [45] Establishment of a human induced pluripotent stem cell line (SDQLCHi037-A) from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene
    Wang, Bin
    Yang, Lu
    Li, Yue
    Gao, Min
    Zhang, Haiyan
    Yang, Xiaomeng
    Guan, Jingyun
    Liu, Yi
    Gai, Zhongtao
    STEM CELL RESEARCH, 2021, 51
  • [46] Generation and characterization of a human induced pluripotent stem cell (iPSC) line from a patient with congenital heart disease (CHD)
    Lin, Hui
    Ye, Shi-Qiao
    Xu, Zhao-Hui
    Penaloza, Jacqueline S.
    Aljuhani, Mona
    Vetter, Tatyana
    Zhao, Ming -Tao
    McBride, Kim L.
    STEM CELL RESEARCH, 2022, 65
  • [47] Generation and characterization of induced pluripotent stem cell line (IGIBi001-A) from a sickle cell anemia patient with homozygous β-globin mutation
    Bhargava, Nupur
    Jaitly, Shashank
    Goswami, Sangam Giri
    Jain, Suman
    Chakraborty, Debojyoti
    Ramalingam, Sivaprakash
    STEM CELL RESEARCH, 2019, 39
  • [48] Generation of TSC1 knockout induced pluripotent stem cell (iPSC) line
    Shan, Wei
    Yang, Huajun
    Ren, Qian
    Wang, Qun
    An, Guipeng
    STEM CELL RESEARCH, 2022, 64
  • [49] Generation of an induced pluripotent stem cell line (ZSPHARi002-A) from a patient with autosomal dominant polycystic kidney disease carrying a heterozygous PKD1 mutation
    Zhang, Yeye
    Chen, Ye
    Fan, Jun
    Lu, Guangzhao
    Lv, Qianzhou
    Lao, Donghui
    Li, Xiaoyu
    STEM CELL RESEARCH, 2025, 82
  • [50] Generation and characterization of a Notch1 signaling-specific reporter mouse line
    Smith, Emma
    Claudinot, Stephanie
    Lehal, Rajwinder
    Pellegrinet, Luca
    Barrandon, Yann
    Radtke, Freddy
    GENESIS, 2012, 50 (09) : 700 - 710
12345