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Generation of a human iPSC line from a Parkinson's disease patient with a novel CHCHD2 mutation (p.R145Q)open access
- Authors
- Chen, Xiaona; Sun, Jing; Wang, Tian; Tang, Qingyuan; Su, Lu; Sun, Yimin; Chen, Liang; Seo, Hyemyung; Cheng, Tianlin; Wang, Jian; Song, Bin
- Issue Date
- Jun-2024
- Publisher
- Elsevier B.V.
- Citation
- Stem Cell Research, v.77, pp 1 - 5
- Pages
- 5
- Indexed
- SCIE
SCOPUS
- Journal Title
- Stem Cell Research
- Volume
- 77
- Start Page
- 1
- End Page
- 5
- ISSN
- 1873-5061
1876-7753
- Abstract
- Mutations in CHCHD2 have been reported to be associated with familial Parkinson's disease (PD). We generated a human induced pluripotent stem cell (hiPSC) line by reprogramming dermal fibroblasts from a PD patient harboring a novel CHCHD2 mutation (c.434G > A, p.R145Q). This line exhibited human embryonic stem cell (hESC)-like clonal morphology, expression of undifferentiated stem cell markers, a normal karyotype and trilineage differentiation capacity and thus the potential to serve as a model for further investigating the underlying molecular mechanisms of CHCHD2 function in PD. © 2024 The Authors
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Related Researcher
- SEO, HYE MYUNG
- ERICA 과학기술융합대학 (ERICA 의약생명과학과)