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IPSC-derived neural cells and strategies for upregulating the wt allele in patient cells
Published on Jun 14, 202334 Views
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Chapter list
IPSC-derived neural cells and strategies for upregulating the wildtype allele in patient cells00:00
The molecular basis of Neurodevelopmental Disorders (NDDs)00:26
Kleefstra Syndrome02:31
General strategy04:36
Measuring neural network activity of iPSC-derived networks08:30
Altered network activity in Kleefstra syndrome patient derived networks09:41
Network dysfunction in Kleefstra syndrome is mediated by enhanced NMDAR signaling11:52
Can we use Kleefstra MEA fingerprint to test variants of unknown significance?15:21
Altered response to NMDAr antagonist (MK801) in VUS1 neurons18:38
Applications of iPSC-derived neurons19:35
Personalized medicine: Patient specific drug testing20:12
NDDs: Convergence from genes to phenotypes22:10
Haploinsufficient disorders23:23
Upregulate translation of the wildtype EHMT1 transcript24:13
Upregulate transcription of the wildtype EHMT1 copy26:14
Upregulate transcription of the wildtype EHMT1 copy27:19
upregulation of the remaining wt allele28:16
Acknowledgement32:18