Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson's disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A)
从患有纯合 PLA2G6: c.2222G>A (p. Arg741Gln) 突变 (NCBSi003-A) 的早发性帕金森病 (YOPD) 患者和未受影响的杂合亲本 (NCBSi004-A) 中生成不依赖饲养细胞的无转基因 iPSC 系
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作者:Renjitha Gopurappilly, Thasneem Musthafa, Salil Sukumaran, Biju Viswanath, Gaiti Hasan
| 期刊: | Stem Cell Research | 影响因子: | 0.800 |
| 时间: | 2023 | 起止号: | 2023 Mar:67:103033. |
| doi: | 10.1016/j.scr.2023.103033 | 研究方向: | 神经 |
| 疾病类型: | 帕金森 | 细胞类型: | 其它细胞 |
Abstract
Phospholipase A2 group 6 (PLA2G6, iPLA2β or PARK14) gene encodes a calcium-independent group 6 phospholipase A2 enzyme and is associated with young-onset autosomal recessive Parkinson's disease (PD). We generated human induced pluripotent stem cell (iPSC) lines from a patient with young-onset PD carrying a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A). These iPSC lines will be used for investigating the key molecular signatures of young-onset PD (YOPD), and to understand the predictive phenotypes of the disease.
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