Generation of a human iPSC line (CIBi013-A) from a patient with young-onset Parkinson’s disease carrying a novel homozygous PARK7 (DJ-1) mutation

[摘要] Mutations in PARK7 and the resulting alterations in its production protein (DJ-1) are tightly associated with Parkinson’s disease. We generated a human induced pluripotent stem cell (iPSC) line (CIBi013-A) from a patient with young-onset Parkinson’s disease (YOPD) who carried a novel homozygous PARK7 (DJ-1) mutation (chr1:8037723, c.334C>G). The generated iPSCs will be used for investigating phenotype and underlying molecular mechanisms in patient-derived cells.

[学科分类] 生理学