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| Status |
Public on Jan 17, 2022 |
| Title |
DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières Syndrome astrocytes [scRNA-Seq] |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
The contribution of the different CNS cell types to Aicardi-Goutiéres Syndrome pathogenesis is still unclear. With the aim to elucidate how oligodendrocytes, neurons and astrocytes impact AGS human phenotype we interrogate transcriptomes of the different cell populations performing single-cell RNA-Seq (scRNASeq). We compared cells deriving from AGS patient-derived iPSC harboring mutations in TREX1 (AGS1) or RNASEH2B (AGS2) to healthy donor control (WT) cells differentiated into mixed neuronal/glial cell populations.
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| Overall design |
To study AGS pathological mechanisms in a physiologically relevant neural context we differentiated iPS cells from AGS patients harboring mutations in TREX1 (AGS1: compound heterozygous for p.R97H and p.S88fs*22 (Ferraro et al., 2019) or RNASEH2B (AGS2: homozygous for p.A177T (Ferraro et al., 2019) respectively and an healthy donor control (WT) into mixed neuronal/glial cell populations (Frati et al., 2018; Santos et al., 2017). The resulted oligodendrocytes, neurons and astrocyte mixed population were identified by several literatures reported markers and further analyzed for differential expression of the key pathways involved in the disease.
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| Contributor(s) |
Giordano A, Abou Alezz M, Valsoni S, Genua M, Ostuni R, Merelli I, Kajaste-Rudnitski A |
| Citation(s) |
35262626 |
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| Submission date |
Jan 14, 2022 |
| Last update date |
Mar 31, 2022 |
| Contact name |
Monah Abou Alezz |
| E-mail(s) |
aboualezz.monah@hsr.it
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| Organization name |
SR-TIGET
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| Street address |
Via Olgettina 60
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| City |
Milan |
| ZIP/Postal code |
20132 |
| Country |
Italy |
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| Platforms (1) |
| GPL18573 |
Illumina NextSeq 500 (Homo sapiens) |
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| Samples (3) |
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| This SubSeries is part of SuperSeries: |
| GSE193714 |
DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières Syndrome astrocytes |
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| Relations |
| BioProject |
PRJNA797376 |
