Production of a human iPSC line from an early-onset Parkinson's disease patient with a novel CHCHD2 gene truncated mutation


CHCHD2 mutations have been reported to cause Parkinson's disease (PD) by a loss of function in mitochondria. Most reported mutations, however, were missense, which was not the perfect model for a study of haploinsufficiency. Here, a truncated mutation, CHCHD2 p.Pro53Alafs*38, was identified in one familial early-onset PD patient. We generated a human-induced pluripotent stem cell (iPSC) line WCHSCUi001-A from this patient. The generated iPSCs resembled human embryonic stem cells, expressed pluripotency markers, exhibited a normal karyotype and could be differentiated into three germ layers in vitro. This line will be valuable for investigating the disease mechanisms and screening candidate drugs. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Jiang Z, Gu XJ, Su WM, Duan QQ, Lin JY, Cao B, Shang HF, Chen YP
Journal Stem cell research
Publication Date 2022 Aug 4;64:102881
PubMed 35944313
DOI 10.1016/j.scr.2022.102881

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