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Stem cell research

Stem cell research

IF: 0.8
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Generation of a human iPSC line from a Parkinson’s disease patient with a novel CHCHD2 mutation (p.R145Q)

Published:9 April 2024 DOI: 10.1016/j.scr.2024.103419
Xiaona Chen , Jing Sun , Tian Wang , Qingyuan Tang , Lu Su , Yimin Sun , Liang Chen , Hyemyung Seo , Tianlin Cheng , Jian Wang , Bin Song

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.

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