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Molecular and functional characterization of FD-iPSC derived neural crest precursor cells

ABSTRACT: Global gene expression analysis of FD-iPSC and deribved neural crest cells Here we report the derivation of patient specific Familial Dysautonomia-iPSCs and their directed differentiation into multiple cell types capable of modeling the tissue specific splicing defect in vitro.

ORGANISM(S): Homo sapiens

PROVIDER: GSE17043 | GEO | 2009/08/31

SECONDARY ACCESSION(S): PRJNA117847

REPOSITORIES: GEO

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Molecular and functional characterization of FD-iPSC derived neural crest precursor cells

Project description:Global gene expression analysis of FD-iPSC and deribved neural crest cells Here we report the derivation of patient specific Familial Dysautonomia-iPSCs and their directed differentiation into multiple cell types capable of modeling the tissue specific splicing defect in vitro. Undifferentiated hESCs were exposed to control and drug treatments for 24 hours followed by mRNA expression analysis Global gene expression analysis of FD-iPSC and derived neural crest cells

2009-08-31 | E-GEOD-17043 | biostudies-arrayexpress

Transcription profiling of human olfactory ecto-mesenchymal stem cells (hOE-MSCs) from familial dysautonomia (FD) patients with or without kinetin treatment

Project description:Human olfactory ecto-mesenchymal stem cells (hOE-MSCs) from controls and familial dysautonomia (FD) patients were cultured in either sphere-forming conditions (ITS + EGF + bFGF) or in the presence of retinoic acid, forskolin and Sonic Hedgehog (rafnshh) for 7 days to induce neuroglial differentiation and were also treated or not with kinetin (100 mM for 48h) which corrects the aberrant splicing of IKBKAP mRNA. We used the recently described model of human olfactory ecto-mesenchymal stem cells to identify genes differentially expressed between controls and familial dysautonomia patients, and also the genes sensitive to kinetin which corrects aberrant splicing of IKBKAP mRNA Total RNAs were extracted from 20 samples including: 4 control and 4 FD hOE-MSCs-derived sphere cultures, 4 control and 4 FD rafnshh-treated hOE-MSCs, 4 FD rafnshh-treated hOE-MSCs in the presence of kinetin

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Transcription profiling of human olfactory ecto-mesenchymal stem cells (hOE-MSCs) from familial dysautonomia (FD) patients with or without kinetin treatment

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RNA sequencing of hiPSC derived neural crest populations from Familial Dysautonomia patients

Project description:We have generated expression profiles of induced pluripotent stem cells (iPSCs) and iPSC-derived neural crest populations from Familial Dysautonomia patients. These profiles were compared to a normal iPSC line that does not harbor the IKBKAP mutation. All cell types were differentiated from patient derived iPSCs. Bulk iPSCs were harvested for RNA and the neural crest populations were sorted on day 18 for p75/HNK1 before RNA isolation.

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RNA sequencing of hiPSC derived neural crest populations from Familial Dysautonomia patients

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Transcription profiling by array of human olfactory ecto-mesenchymal stem cells in familial dysautonomia

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Analysis of peripheral neuron protein expression in the absence of Ikbkap/Elp1

Project description:Familial dysautonomia (FD) results from mutation in IKBKAP/ELP1, a gene encoding the scaffolding protein for the Elongator complex. This highly conserved complex is required for the methoxy-carbonyl-methyl (mcm5) modification of uridines located in the wobble position of tRNA molecules (U34). In FD, the peripheral nervous system is particularly devastated by loss of IKBKAP. Here we investigate protein expression within the dorsal root ganglia (DRG) of a mouse model of FD. In this model, Ikbkap is selectively deleted in the neural crest lineage using a Wnt1-Cre transgene and floxed Ikbkap. DRG were collected and pooled from seven Ikbkap conditional knockout (Wnt1-Cre;IkbkapLoxP/LoxP) and seven control E17.5 mice and analyzed via UHPLC-MS/MS.

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Disease Severity in Familial Dysautonomia

Project description:<p>Familial Dysautonomia (FD) is a developmental and degenerative genetic disease that manifests in the neural crest cells and peripheral nervous system (PNS). Despite all FD patients having the same mutation in <i>IKBKAP</i>, patients present with varying disease severity, ranging from mild to severe. We used the human pluripotent stem cell technology to recapitulate this varying disease severity in the dish. Further, we found that severe, but not mild patients harbor mutations in candidate modifier genes that may contribute to severe disease presentation.</p>

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Exon Level Expression Profiling: a Novel Unbiased Transcriptome

Project description:Transcriptome analysis of the effect of RECTAS on fibroblast cells derived from a familial dysautonomia patient. We analyzed fibroblast derived from FD patient (3 control (treated with 0.1% DMSO) and 3 treated (treated with 2 M-BM-5M RECTAS)) using the Affymetrix Human Exon 1.0 ST platform. Array data was processed by Affymetrix Exon Array Computational Tool. No techinical replicates were performed.

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Parasympathetic neurons derived from human pluripotent stem cells model human diseases and development

Project description:Parasympathetic neurons (parasymNs) belong to the autonomic nervous system (ANS) and are critical for unconscious body responses, including rest-and-digest and calming the body. ParasymN dysfunction has been found involved in neural diseases such as autonomic neuropathy and neurological autoimmune disease; and parasymN innervation is important for organ development. However, human parasymN function and dysfunction is vastly understudied, due to the lack of a model system. Human pluripotent stem cell (hPSC)-derived neurons can fill this void and serve for disease modeling, drug screening, and transplantation therapy. Here, we developed a differentiation paradigm detailing for the first time, the derivation of functional human parasymNs from Schwann cell progenitors (SCP). We employ these neurons (i) to assess human ANS development paradigms, (ii) to model neuropathy in the genetic disorder Familial Dysautonomia (FD), (iii) to show parasymN dysfunction during SARS-CoV-2 infection, (iv) to model the autoimmune disease Sjörgen’s syndrome and, (v) to show that parasymN innervation of white adipocytes during development and help mature the tissue. Our model system will become instrumental for future disease mechanistic and drug discovery studies as well as for human developmental studies.

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