Generation and validation of an iPSC line HMSCATi009-A from a patient with frontotemporal dementia

The CHMP2B gene is recognized as a causative factor in neurodegenerative disorders, particularly frontotemporal dementia (FTD). In this study, peripheral blood mononuclear cells (PBMCs) were obtained from a FTD patient carrying a heterozygous CHMP2B c.532-2 (A > T) mutation and successfully reprogrammed into induced pluripotent stem cell (iPSC) line HMSCATi009-A. The resulting iPSC line exhibited a normal karyotype, expressed high levels of core pluripotency markers, and retained the potential to differentiate into derivatives of all three germ layers, ectoderm, mesoderm, and endoderm. Furthermore, the iPSC line was verified negative for mycoplasma contamination. This patient-specific iPSC line constitutes a physiologically relevant platform for elucidating FTD pathogenic mechanisms and supporting screening for novel therapeutics.

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Publication Details

Journal
Stem Cell Research
Published
2026-01-03
DOI
https://doi.org/10.1016/j.scr.2025.103903
Primary Topic
Amyotrophic Lateral Sclerosis Research
Type
article
Field-Weighted Citation Impact
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article

Generation and validation of an iPSC line HMSCATi009-A from a patient with frontotemporal dementia

Min Ma, Hongying Zhao, Qian Ren, Jiaxuan Wang et al.
Stem Cell Research
Amyotrophic Lateral Sclerosis Research
article

Generation and validation of an iPSC line HMSCATi009-A from a patient with frontotemporal dementia

Min Ma, Hongying Zhao, Qian Ren, Jiaxuan Wang, Biqing Cao, Aoyu Hu, Shan Wang
article en

Abstract

The CHMP2B gene is recognized as a causative factor in neurodegenerative disorders, particularly frontotemporal dementia (FTD). In this study, peripheral blood mononuclear cells (PBMCs) were obtained from a FTD patient carrying a heterozygous CHMP2B c.532-2 (A > T) mutation and successfully reprogrammed into induced pluripotent stem cell (iPSC) line HMSCATi009-A. The resulting iPSC line exhibited a normal karyotype, expressed high levels of core pluripotency markers, and retained the potential to differentiate into derivatives of all three germ layers, ectoderm, mesoderm, and endoderm. Furthermore, the iPSC line was verified negative for mycoplasma contamination. This patient-specific iPSC line constitutes a physiologically relevant platform for elucidating FTD pathogenic mechanisms and supporting screening for novel therapeutics.

Stem Cell ResearchVol. 90
Hebei Medical University (CN), Soochow University (CN), Second Hospital of Hebei Medical University (CN)
Openalex Percentile: Top 98%
Amyotrophic Lateral Sclerosis Research
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