Generation of a human iPSC line from a Parkinson’s disease patient with a novel CHCHD2 mutation (p.R145Q)

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...

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Published inStem cell research Vol. 77; p. 103419
Main Authors Chen, Xiaona, Sun, Jing, Wang, Tian, Tang, Qingyuan, Su, Lu, Sun, Yimin, Chen, Liang, Seo, Hyemyung, Cheng, Tianlin, Wang, Jian, Song, Bin
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.06.2024
Elsevier
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Summary: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.
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content type line 23
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103419