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Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex / Wardiya AFSHAR SABER in Molecular Autism, 11 (2020)
[article]
Titre : Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex Type de document : Texte imprimé et/ou numérique Auteurs : Wardiya AFSHAR SABER, Auteur ; Mustafa SAHIN, Auteur Article en page(s) : 16 p. Langues : Anglais (eng) Mots-clés : Astrocytes Autism Brain organoids CRISPR/Cas9 Cortical tuber Human pluripotent stem cells Neurons Purkinje neurons Tuberous sclerosis complex Therapeutics, and Quadrant Biosciences and has served on the Scientific Advisory Board of Sage Therapeutics, Roche, Takeda, and PTEN Research Foundation. Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by epilepsy, intellectual disability, and benign tumors of the brain, heart, skin, and kidney. Animal models have contributed to our understanding of normal and abnormal human brain development, but the construction of models that accurately recapitulate a human pathology remains challenging. Recent advances in stem cell biology with the derivation of human-induced pluripotent stem cells (hiPSCs) from somatic cells from patients have opened new avenues to the study of TSC. This approach combined with gene-editing tools such as CRISPR/Cas9 offers the advantage of preserving patient-specific genetic background and the ability to generate isogenic controls by correcting a specific mutation. The patient cell line and the isogenic control can be differentiated into the cell type of interest to model various aspects of TSC. In this review, we discuss the remarkable capacity of these cells to be used as a model for TSC in two- and three-dimensional cultures, the potential variability in iPSC models, and highlight differences between findings reported to date. En ligne : http://dx.doi.org/10.1186/s13229-020-0320-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Molecular Autism > 11 (2020) . - 16 p.[article] Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex [Texte imprimé et/ou numérique] / Wardiya AFSHAR SABER, Auteur ; Mustafa SAHIN, Auteur . - 16 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 16 p.
Mots-clés : Astrocytes Autism Brain organoids CRISPR/Cas9 Cortical tuber Human pluripotent stem cells Neurons Purkinje neurons Tuberous sclerosis complex Therapeutics, and Quadrant Biosciences and has served on the Scientific Advisory Board of Sage Therapeutics, Roche, Takeda, and PTEN Research Foundation. Index. décimale : PER Périodiques Résumé : Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by epilepsy, intellectual disability, and benign tumors of the brain, heart, skin, and kidney. Animal models have contributed to our understanding of normal and abnormal human brain development, but the construction of models that accurately recapitulate a human pathology remains challenging. Recent advances in stem cell biology with the derivation of human-induced pluripotent stem cells (hiPSCs) from somatic cells from patients have opened new avenues to the study of TSC. This approach combined with gene-editing tools such as CRISPR/Cas9 offers the advantage of preserving patient-specific genetic background and the ability to generate isogenic controls by correcting a specific mutation. The patient cell line and the isogenic control can be differentiated into the cell type of interest to model various aspects of TSC. In this review, we discuss the remarkable capacity of these cells to be used as a model for TSC in two- and three-dimensional cultures, the potential variability in iPSC models, and highlight differences between findings reported to date. En ligne : http://dx.doi.org/10.1186/s13229-020-0320-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427