Daoutsali Elena, Buijsen Ronald A M, van de Pas Simone, Jong Anke 't, Mikkers Harald, Brands Tom, Eussen Bert, de Klein Annelies, van der Graaf Linda M, Pepers Barry A, Freund Christian, Terwindt Gisela M, Orlova Valeria V, van Roon-Mom Willeke M C
Department of Human Genetics, LUMC, Leiden, The Netherlands.
Department of Human Genetics, LUMC, Leiden, The Netherlands.
Stem Cell Res. 2019 Jan;34:101359. doi: 10.1016/j.scr.2018.101359. Epub 2018 Dec 14.
Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type (HCHWA-D) is an autosomal dominant hereditary disease caused by a point mutation in exon 17 of the APP gene. We generated human induced pluripotent stem cells (hiPSCs) from a symptomatic HCHWA-D patient by using non-integrating Sendai virus (SeV). The newly generated hiPSCs express all pluripotency markers, have a normal karyotype, carry the Dutch mutation, can differentiate in the three germ layers in vitro and are SeV free.
荷兰型遗传性脑淀粉样血管病（HCHWA-D）是一种常染色体显性遗传病，由APP基因第17外显子的点突变引起。我们通过使用无整合能力的仙台病毒（SeV），从一名有症状的HCHWA-D患者身上诱导生成了人诱导多能干细胞（hiPSC）。新生成的hiPSC表达所有多能性标志物，具有正常的核型，携带荷兰型突变，能够在体外分化为三个胚层，并且不含SeV。
