Generation of an induced pluripotent stem cell line (ZZUi020-A) from a patient with Parkinson’s disease harboring the intermediate-length GGC repeat expansions in the NOTCH2NLC gene

oleh: Yu Fan, Fen Liu, Li-yuan Fan, Cheng-yuan Mao, Han Liu, Chan Zhang, Yan-peng Yuan, Jing Yang, Yan-lin Wang, Yu-tao Liu, Chang-he Shi, Yu-ming Xu

Format: Article
Diterbitkan: Elsevier 2021-04-01

Deskripsi

Here, we describe the generation of an induced pluripotent stem cell (iPSC) line, from a female patient diagnosed with Parkinson’s disease (PD). The patient carries a heterozygous intermediate-length GGC repeat expansions mutation in the NOTCH2NLC gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver Klf4, OCT3/4, SOX2 and c-MYC factors. The generated iPSC line (ZZUi020-A) presented with expression of common pluripotency markers, showed potential of differentiating into derivatives of the three germ layers, and displayed a normal karyotype. The clone ZZUi020-A is presented thereafter, it can be used to study the mechanisms underlying NOTCH2NLC-PD pathogenesis.