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

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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