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Generation of an induced pluripotent stem cell line (ICNDXHi001-A) from a patient with frontotemporal dementia carrying a heterozygous mutation c.796C > G (p.L266V) in MAPT.

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机构: [1]Innovation Center for Neurological Disorders and Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China
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Frontotemporal dementia (FTD) caused by microtubule-associated protein tau (MAPT) mutations is not rare and is almost fully penetrant. However, no disease-modifying treatment for FTD is currently available. Here, we demonstrated the establishment and characterization of a novel human induced pluripotent stem cell (iPSC) line ICNDXHi001-A from a patient with FTD carrying genetic variant MAPT c.796C > G (p.L266V). The generated cell line showed trilineage differentiation potential, expression of pluripotency markers, a normal karyotype, and retention of MAPT mutation. The study provides a useful model to further elucidate the underlying mechanisms of FTD and to facilitate novel therapy development.Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

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出版当年[2021]版:
大类 | 4 区 医学
小类 | 4 区 细胞与组织工程 4 区 生物工程与应用微生物 4 区 细胞生物学
最新[2025]版:
大类 | 4 区 医学
小类 | 4 区 生物工程与应用微生物 4 区 细胞与组织工程 4 区 细胞生物学
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出版当年[2020]版:
Q4 CELL BIOLOGY Q4 CELL & TISSUE ENGINEERING Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY
最新[2023]版:
Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Q4 CELL & TISSUE ENGINEERING Q4 CELL BIOLOGY

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第一作者机构: [1]Innovation Center for Neurological Disorders and Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China
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通讯机构: [1]Innovation Center for Neurological Disorders and Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases, Beijing, China [*1]Innovation Center for Neurological Disorders and Department of Neurology, Xuanwu Hospital, Capital Medical University, National Clinical Research Center for Geriatric Diseases, 45 Changchun St., Beijing 100000, China
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