Generation of two iPS cell lines (HIHDNDi001-A and HIHDNDi001-B) from a Parkinson's disease patient carrying the heterozygous p.A30P mutation in SNCA

从携带 SNCA 杂合 p.A30P 突变的帕金森病患者体内生成两种 iPS 细胞系(HIHDNDi001-A 和 HIHDNDi001-B)

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作者:Peter A Barbuti, Bruno F R Santos, Claire M Dording, Gérald Cruciani, François Massart, Andreas Hummel, Rejko Krüger

Abstract

Dermal fibroblasts from a patient carrying a heterozygous c.88G > C mutation in the SNCA gene that encodes alpha-synuclein were reprogrammed to pluripotency by retroviruses. This pathogenic mutation generates the p.A30P form of the alpha-synuclein protein leading to autosomal dominantly inherited Parkinson's disease (PD). Two clonal iPS cell lines were generated (A30P-3 and A30P-4) and characterised by validating the silencing of viral transgenes, the expression of endogenous pluripotency genes, directed differentiation into three germ layers in-vitro and a stable molecular genotype. These iPSC lines will serve as a valuable resource in determining the role of the p.A30P SNCA mutation in PD pathogenesis.

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