使用CRISPR/Cas9在人诱导多能干细胞中生成纯合ABCA7基因敲除细胞系（AHMUCNi002-A）。
Generation of a homozygous ABCA7 knockout cell line (AHMUCNi002-A) in human iPSCs using CRISPR/Cas9.
作者信息
Li Juanjuan, Yin Letian, Wang Chengwei, Xu Yin
机构信息
School of Mental Health and Psychological Sciences, Anhui Medical University, Hefei, China; Anhui Province Key Laboratory of Cognition and Neuropsychiatric Disorders, Hefei, China; Collaborative Innovation Center of Neuropsychiatric Disorders and Mental Health, Hefei, China; Laboratory of Molecular Neuropsychiatry, Anhui Medical University, Hefei, China.
Department of Clinical Laboratory, Maternity and Child Healthcare Hospital Affiliated to Anhui Medical University, Anhui Women and Children's Medical Center, Hefei Maternal and Child Health Hospital, Hefei, China.
出版信息
Stem Cell Res. 2025 Jun;85:103700. doi: 10.1016/j.scr.2025.103700. Epub 2025 Mar 25.
ABCA7, located on chromosome 19, encodes an ATP-binding cassette transporter. Loss-of-function variants of ABCA7 are associated with an increased risk of Alzheimer's disease. To explore the role of ABCA7 deficiency in the pathogenesis of Alzheimer's disease, CRISPR/Cas9 genome-editing technology was utilized to generate a homozygous ABCA7 knockout in human induced pluripotent stem cells (hiPSCs). The resulting ABCA7 knockout cell line exhibited normal pluripotency, a stable karyotype, and the ability to differentiate into all three germ layers.
ABCA7位于19号染色体上，编码一种ATP结合盒转运蛋白。ABCA7的功能丧失变体与阿尔茨海默病风险增加有关。为了探究ABCA7缺陷在阿尔茨海默病发病机制中的作用，利用CRISPR/Cas9基因组编辑技术在人诱导多能干细胞（hiPSC）中产生纯合ABCA7基因敲除。所得的ABCA7基因敲除细胞系表现出正常的多能性、稳定的核型以及分化为所有三个胚层的能力。
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