Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1

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• 作者：Alisa Tubsuwan^a ; Carlota Pires^b ; Mikkel A. Rasmussen^c ; Benjamin Schmid^c ; Jø ; rgen E. Nielsen^d ; Lena E. Hjermind^d ; Vanessa Hall^b ; Troels T. Nielsen^d ; Gunhild Waldemar^d ; Poul Hyttel^b ; Christian Clausen^c ; Narisorn Kitiyanant^a ; Kristine K. Freude^b ; Bjø ; rn Holst^c
• 刊名：Stem Cell Research
• 出版年：2016
• 出版时间：January 2016
• 年：2016
• 卷：16
• 期：1
• 页码：110-112
• 全文大小：437 K

文摘

Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts isolated from a 58-year old male with a L150P mutation in the presenilin 1 (PSEN-1) gene, which is responsible for the majority of familial cases of Alzheimer's disease (AD). The iPSCs were established by co-electroporation with episomal plasmids containing hOCT4, hSOX2, hL-MYC, hKLF4, hNANOG, hLIN28, and short hairpin RNA against TP53. The iPSCs contained the specific heterozygous mutation c.449C > T, had normal karyotype, expressed the expected pluripotency genes and displayed in vitro differentiation potential to the three germ layers. The iPSCs may be useful for studying familial AD pathology in vitro.