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Genotype data from induced Pluripotent Stem cells from OPA1 Haploinsufficiency patients

ABSTRACT: We have generated human induced Pluripotent Stem cells (hiPSc) from two individuals with OPA1 haploinsufficiency, and one control donor, using Sendai virus-mediated delivery of reprogramming factors. hiPSc lines have been screened using SNP array to assess chromosomal stability (alongside the fibroblast lines from which they derived), and validation of the pluripotency of the hiPSc lines is provided by Pluritest assessment of transcriptome datasets, prior to differentiation to dopaminergic neuronal clutures and downstream functional assays. Mitochondrial fragmentation in iPSC-derived dopaminergic neurons with OPA1 haploinsufficiency underpins increased apoptosis and syndromic Parkinsonism.

ORGANISM(S): Homo sapiens

PROVIDER: GSE94432 | GEO | 2017/02/03

SECONDARY ACCESSION(S): PRJNA369676

REPOSITORIES: GEO

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Gene expression data from induced Pluripotent Stem cells from OPA1 Haploinsufficiency patients

Project description:We have generated human induced Pluripotent Stem cells (hiPSc) from two individuals with OPA1 haploinsufficiency, and one control donor, using Sendai virus-mediated delivery of reprogramming factors. hiPSc lines have been screened using SNP array to assess chromosomal stability (alongside the fibroblast lines from which they derived), and validation of the pluripotency of the hiPSc lines is provided by Pluritest assessment of transcriptome datasets, prior to differentiation to dopaminergic neuronal clutures and downstream functional assays. Mitochondrial fragmentation in iPSC-derived dopaminergic neurons with OPA1 haploinsufficiency underpins increased apoptosis and syndromic Parkinsonism.

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Project description:We have generated human induced Pluripotent Stem cells (hiPSc) using Retroviral and Sendai virus-mediated delivery of reprogramming factors. hiPSc lines have been screened using SNP array to assess chromosomal stability (alongside the fibroblast lines from which they were derived), and validation of the pluripotency of the hiPSc lines is provided by Pluritest assessment of transcriptome datasets, prior to differentiation and downstream assays. Proteomic analysis of GBA1 patient-derived dopaminergic neurons reveal impeded neurite outgrowth.

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SNP data from human fibroblasts and induced Pluripotent Stem cells from Parkinson's Disease patients

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