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Article

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

Stem cell research - 1 Jun 2024

Chen Xiaona, Sun Jing, Wang Tian, Tang Qingyuan, Su Lu, Sun Yimin, Chen Liang, Seo Hyemyung, Cheng Tianlin, Wang Jian, Song Bin

Abstract excerpt

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...

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Identifiers

PMID: 38631182
DOI: 10.1016/j.scr.2024.103419

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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