Novak Gabriela, Finkbeiner Steven, Skibinski Gaia, Skupin Alexander
The Integrative Cell Signalling Group, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg; Gladstone Institutes and Neurology and Physiology Department, UC San Francisco San Francisco, CA 94158, USA.
Gladstone Institutes and Neurology and Physiology Department, UC San Francisco San Francisco, CA 94158, USA.
Stem Cell Res. 2021 Dec;57:102600. doi: 10.1016/j.scr.2021.102600. Epub 2021 Nov 22.
Mutations in the SNCA (α-synuclein, PARK1) gene significantly contribute to Parkinson's disease and SNCA inclusions are strongly associated with PD. Fibroblasts from a 51-year-old female patient with disease onset at 39 years, carrying the A53T SNCA mutation (LCSBi003, ND40996), and fibroblasts with a triplication of the SNCA gene obtained from a 55-year-old female patient with disease onset at 52 years (LCSBi007, ND27760), were reprogrammed into human induced pluripotent stem cells (iPSCs) using Sendai virus. The presence of other genetic variants was determined using array comparative genomic hybridization. Presence of SNCA triplication was confirmed by FISH analysis.
SNCA（α-突触核蛋白，PARK1）基因突变是帕金森病的重要病因，且SNCA包涵体与帕金森病密切相关。从一名39岁起病、携带A53T SNCA突变的51岁女性患者（LCSBi003，ND40996）获取的成纤维细胞，以及从一名52岁起病的55岁女性患者（LCSBi007，ND27760）获取的SNCA基因三倍体成纤维细胞，利用仙台病毒重编程为人类诱导多能干细胞（iPSC）。使用阵列比较基因组杂交确定其他遗传变异的存在。通过荧光原位杂交分析确认了SNCA三倍体的存在。
