Autism-Associated SHANK3 Mutations Impair Maturation of Neuromuscular Junctions and Striated Muscles

Investigators used a combination of patient-derived human iPSCs, Shank3Δ11(−/−) mice, and Phelan-McDermid syndrome muscle biopsies from patients of different ages to analyze the role of SHANK3 on motor unit development.
[Science Translational Medicine]
Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles | Science Translational Medicine. (n.d.). Retrieved June 17, 2020, from https://stm.sciencemag.org/content/12/547/eaaz3267 Cite
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High-Throughput Intracellular Biopsy of microRNAs for Dissecting the Temporal Dynamics of Cellular Heterogeneity

Using intracellular biopsy technique (inCell-Biopsy), scientists analyzed the temporal miRNA transcriptome over the differentiation of ESCs. The combinatorial miRNA expression patterns derived by inCell-Biopsy identified emerging cell subpopulations differentiated from ESCs and revealed the dynamic evolution of cellular heterogeneity.
[Science Advances]
Wang, Z., Qi, L., Yang, Y., Lu, M., Xie, K., Zhao, X., Cheung, E. H. C., Wang, Y., Jiang, X., Zhang, W., Huang, L., Wang, X., & Shi, P. (2020). High-throughput intracellular biopsy of microRNAs for dissecting the temporal dynamics of cellular heterogeneity. Science Advances, 6(24), eaba4971. https://doi.org/10.1126/sciadv.aba4971 Cite
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A lncRNA-miRNA-mRNA Network for Human Primed, Naive and Extended Pluripotent Stem Cells

Researchers successfully converted three in-house-derived primed human PSC lines (H10, H24, and iPS) to a naive state and an expanded pluripotent stem cell (EPS) state. Primed, naive and EPS cells displayed state-specific morphologies and expressed pluripotent markers.
[PLoS One]
Ma, Z., Li, Y., Zhang, Y., Chen, J., Tan, T., & Fan, Y. (2020). A lncRNA-miRNA-mRNA network for human primed, naive and extended pluripotent stem cells. PLOS ONE, 15(6), e0234628. https://doi.org/10.1371/journal.pone.0234628 Cite
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Critical Roles of Translation Initiation and RNA Uridylation in Endogenous Retroviral Expression and Neural Differentiation in Pluripotent Stem Cells

Scientists generated a conditional knockout of NAT1 in primed pluripotent stem cells (PSCs) and used the cells for the functional analyses of NAT1. Their results showed that NAT1 was required for the self-renewal and neural differentiation of primed PSCs.
[Cell Reports]
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Cryopreserved Human Oocytes and Cord Blood Cells Can Produce Somatic Cell Nuclear Transfer-Derived Pluripotent Stem Cells with a Homozygous HLA Type

Researchers applied a modified derivation method to the PSC line and first obtained human somatic cell nuclear transfer-PSC lines derived from both donated cryopreserved oocytes and cord blood cells with a homozygous human leukocyte antigen type.
[Stem Cell Reports]
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Variable Outcomes in Neural Differentiation of Human PSCs Arise from Intrinsic Differences in Developmental Signaling Pathways

The authors focused on a well-established differentiation process to cerebral cortex neural progenitor cells and their neuronal progeny from human PSCs.
[Cell Reports]
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R-Loops Coordinate with SOX2 in Regulating Reprogramming to Pluripotency

Investigators profiled R-loops during somatic cell reprogramming and found that dynamic changes in R-loops are essential for reprogramming and occurred before changes in gene expression.
[Genetics]
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An In Vitro Model of Early Anteroposterior Organization during Human Development

The authors showed that human ESCs can be used to generate gastruloids—three-dimensional multicellular aggregates that differentiate to form derivatives of the three germ layers organized spatiotemporally, without additional extra-embryonic tissues.
[Nature]
An in vitro model of early anteroposterior organization during human development | Nature. (n.d.). Retrieved June 16, 2020, from https://www.nature.com/articles/s41586-020-2383-9 Cite
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Human Induced Pluripotent Stem Cell Line Banking for the Production of Rare Blood Type Erythrocytes

Mononuclear cells separated from the peripheral blood of O D-positive and rare blood type donors were cultured to produce and expand erythroid progenitors and reprogrammed into iPSCs. A 31-day serum-free, xeno-free erythroid differentiation protocol was used to generate reticulocytes.
[Journal of Translational Medicine]
Human induced pluripotent stem cell line banking for the production of rare blood type erythrocytes | Journal of Translational Medicine | Full Text. (n.d.). Retrieved June 16, 2020, from https://translational-medicine.biomedcentral.com/articles/10.1186/s12967-020-02403-y#article-info Cite
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AAV-Mediated FOXG1 Gene Editing in Human Rett Primary Cells

Investigators demonstrated that an adeno-associated viruses-coupled CRISPR/Cas9 system was able to target and correct Forkhead Box G1 (FOXG1) variants in patient-derived fibroblasts, iPSCs and iPSC-derived neurons.
[European Journal of Human Genetics]
Croci, S., Carriero, M. L., Capitani, K., Daga, S., Donati, F., Papa, F. T., Frullanti, E., Lopergolo, D., Lamacchia, V., Tita, R., Giliberti, A., Benetti, E., Niccheri, F., Furini, S., Lo Rizzo, C., Conticello, S. G., Renieri, A., & Meloni, I. (2020). AAV-mediated FOXG1 gene editing in human Rett primary cells. European Journal of Human Genetics, 1–13. https://doi.org/10.1038/s41431-020-0652-6 Cite
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Impact of α-Synuclein Pathology on Transplanted hESC-Derived Dopaminergic Neurons in a Humanized α-Synuclein Rat Model of PD

Researchers established a humanized transplantation model of Parkinson’s disease that better recapitulates the main disease features, obtained by coinjection of preformed human α-synuclein (α-syn) fibrils and adeno-associated virus expressing human wild-type α-syn unilaterally into the rat substantia nigra.
[Proceedings of the National Academy of Sciences of the United States of America]
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