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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

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 n...

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Published in:Stem cell research 2021-04, Vol.52, p.102257-102257, Article 102257
Main Authors: Fan, Yu, Liu, Fen, Fan, Li-yuan, Mao, Cheng-yuan, Liu, Han, Zhang, Chan, Yuan, Yan-peng, Yang, Jing, Wang, Yan-lin, Liu, Yu-tao, Shi, Chang-he, Xu, Yu-ming
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container_title Stem cell research
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creator Fan, Yu
Liu, Fen
Fan, Li-yuan
Mao, Cheng-yuan
Liu, Han
Zhang, Chan
Yuan, Yan-peng
Yang, Jing
Wang, Yan-lin
Liu, Yu-tao
Shi, Chang-he
Xu, Yu-ming
description 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.
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title 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
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