Gene Disease Mutation Reference Cellular Phenotypes
APP Alzheimer's Duplication 25285942
NSCs
  • Decreased amount of Aβ38 in NSCs after treatment with γ-secretase modulator
  • Decreased amount of Aβ40 in NSCs after treatment with γ-secretase modulator
  • Decreased amount of Aβ42 in NSCs after treatment with γ-secretase modulator
C9ORF72 Frontotemporal Dementia/Amyotrophic Lateral Sclerosis GGGGCC repeats 24154603
Astrocytes
  • Accumulation of intranuclear RNA foci in astrocytes
NSCs
  • Accumulation of intranuclear RNA foci in NSCs
Neurons
  • Accumulation of RNA foci in neurons
  • Decreased electrical excitability of neurons
  • Decreased formation of RNA foci in neurons after treatment with antisense oligonucleotides
  • Decreased spike size upon depolarization of neurons
  • Presence of co-localization of RNA foci in neurons with Pur-α
  • Presence of co-localization of RNA foci in neurons with hnRNPA1
CACNA1C Timothy Syndrome Cav1.2 22120178
NSCs
  • Decrease in sustained calcium ion rise following depolarization of NSCs after treatment with nimodipine
  • Increase in sustained calcium ion rise following depolarization of NSCs
Neurons
  • Decrease in sustained calcium ion rise following depolarization of neurons after treatment with nimodipine
  • Decreased amount of neurons expressing lower layer markers (FOXP1 and ETV1)
  • Decreased percent of neurons expressing TH+ after treatment with roscovitine
  • Decreased proportion of SATB2 expressing neurons in lower layer marker (FOXP1 and ETV1) expressing neurons
  • Impaired calcium channel inactivation in neurons
  • Increase in fraction of neurons expressing TH
  • Increase in sustained calcium ion rise following depolarization of neurons
  • Increased proportion of CTIP2 expressing neurons in lower layer marker (FOXP1 and ETV1) expressing neurons
  • Increased proportion of neurons expressing upper layer markers (CUX1 and REELIN)
  • Increased secretion of dopamine in neurons
  • Increased secretion of norepinephrine in neurons
CYFIP1 Schizophrenia 15q11.2 24996170
NSCs
  • Impaired structure of adherens junctions in NSCs
DMPK Dystrophia Myotonica Type 1 (Not Specified) 23550732
Astrocytes
  • Accumulation of intranuclear RNA foci in astrocytes
NSCs
  • Accumulation of intranuclear RNA foci in NSCs
Neurons
  • Accumulation of intranuclear RNA foci in neurons
iPSCs
  • Accumulation of intranuclear RNA foci in iPSCs
GBA1 Gaucher Disease N370S 25740845
NSCs
  • Decreased activity levels of Glucocerebrosidase (Gcase) in NSCs
  • Decreased protein levels of Glucocerebrosidase (Gcase) in NSCs
Neurons
  • Decreased activity levels of Glucocerebrosidase (Gcase) in dopaminergic neurons
  • Decreased dopamine reuptake in dopaminergic neurons
  • Decreased intracellular levels of dopamine in dopaminergic neurons
  • Decreased levels of DAT1 mRNA in dopaminergic neurons
  • Decreased levels of VMAT2 mRNA in dopaminergic neurons
  • Decreased levels of colocalized α-synuclein/Lamp2 in dopaminergic neurons after treatment with NCGC607
  • Decreased levels of lysosomal GlcSph in dopaminergic neurons after treatment with NCGC607
  • Decreased levels of α-synuclein in dopaminergic neurons after treatment with NCGC607
  • Decreased protein levels of Glucocerebrosidase (Gcase) in dopaminergic neurons
  • Increased activity levels of Glucocerebrosidase (Gcase) in dopaminergic neurons after treatment with NCGC607
  • Increased levels of lysosomal GlcSph in dopaminergic neurons
  • Increased protein levels of Glucocerebrosidase (Gcase) in dopaminergic neurons after treatment with NCGC607
  • Increased translocation of Glucocerebrosidase (Gcase) to the lysosome in dopaminergic neurons after treatment with NCGC607
  • Presence of co-localized α-synuclein/Lamp2 in dopaminergic neurons
  • Presence of α-synucleinin soma of dopaminergic neurons
GBA1 Gaucher Disease IVS2+1G>T / L444P 25740845
NSCs
  • Decreased activity levels of Glucocerebrosidase (Gcase) in NSCs
  • Decreased protein levels of Glucocerebrosidase (Gcase) in NSCs
Neurons
  • Decreased activity levels of Glucocerebrosidase (Gcase) in dopaminergic neurons
  • Decreased intracellular levels of dopamine in dopaminergic neurons
  • Decreased levels of colocalized α-synuclein/Lamp2 in dopaminergic neurons after treatment with NCGC607
  • Decreased levels of lysosomal GlcSph in dopaminergic neurons after treatment with NCGC607
  • Decreased levels of α-synuclein in dopaminergic neurons after treatment with NCGC607
  • Decreased protein levels of Glucocerebrosidase (Gcase) in dopaminergic neurons
  • Increased activity levels of Glucocerebrosidase (Gcase) in dopaminergic neurons after treatment with NCGC607
  • Increased levels of lysosomal GlcSph in dopaminergic neurons
  • Increased protein levels of Glucocerebrosidase (Gcase) in dopaminergic neurons after treatment with NCGC607
  • Increased translocation of Glucocerebrosidase (Gcase) to the lysosome in dopaminergic neurons after treatment with NCGC607
  • Presence of co-localized α-synuclein/Lamp2 in dopaminergic neurons
  • Presence of α-synucleinin soma of dopaminergic neurons
HTT Huntington's Disease CAG Repeats 21037797
NSCs
  • Increase in caspase-3/7 activity in NSCs upon growth factor deprivation
HTT Huntington's Disease CAG Repeats 22748967
NSCs
  • Decrease in average Oxygen Consumption Rate (OCR) in NSCs after exposure to Carbonyl cyanide-p-trifluoromethoxypheny (FCCP)
  • Decreased TGF-β1 mRNA in NSCs
  • Decreased protein levels of N-cadherin in NSCs
  • Increase in TUNEL-positive NSCs
  • Increase in caspase-3/7 activity in NSCs upon growth factor deprivation
  • Increased susceptibility of NSCs to death after growth factor withdrawal
HTT Huntington's Disease CAG Repeats 22748968
NSCs
  • Decrease in average Oxygen Consumption Rate (OCR) in NSCs after exposure to Carbonyl cyanide-p-trifluoromethoxypheny (FCCP)
  • Decreased ATP/ADP ratios (energy metabolism compromisation) in NSCs
  • Decreased TGF-β1 mRNA in NSCs
  • Decreased protein levels of N-cadherin in NSCs
  • Increase in TUNEL-positive NSCs
  • Increase in caspase-3/7 activity in NSCs upon growth factor deprivation
  • Increased susceptibility of NSCs to death after growth factor withdrawal
Neurons
  • Absence of spontaneously firing neurons after two weeks of differentiation
  • Increase in caspase-3/7 activity in neurons upon BDNF withdrawal
  • Increased calcium dyshomeostasis in neurons after exposure to pathological glutamate levels
  • Increased death of neurons with large CAG expansions
  • Increased neuronal death after exposure to 30 minute glutamate pulses
  • Increased risk of neuronal death
  • Increased risk of neuronal death with BDNF withdrawal
  • Increased susceptibility of neurons to hydrogen peroxide
  • Increased susceptibility to 3-methyladenine (3-MA) in neurons
LRRK2 Parkinson's G2019S 23075850
NSCs
  • Decreased amount of TUJ1+ NSCs
  • Decreased clonal expansion in NSCs
  • Decreased phosphorylation of LRRK2 downstream targets in NSCs after treatment with LRRK2-In-1
  • Impaired ability to retain clonogenic and differentiation capacity in NSCs
  • Impaired formation of MAP2+ NSCs
  • Increased amount of centromeric signals accompanied by reorganization of centromeric heterochromatin in NSCs
  • Increased apoptosis in NSCs after exposure to MG132
  • Increased nuclear disruption in NSCs (enlarged nuclear area, decrease in circularity, and loss of lamin B1 and B2 on specific folds of nuclear envelope)
  • Increased phosphorylation of lamin B1 and B2 in NSCs
  • Increased proteasomal stress in NSCs
  • Partial rescue of normal nuclear morphology in NSCs after treatment with PI3K inhibitor
  • Presence of aberrant non-neuronal cellular morphology in NSCs
  • Presence of spontaneous NSC differentiation at late passages
  • Rescue of aberrant cellular parameters in NSCs after treatment with LRRK2-In-1
LRRK2 Parkinson's G2019S 24148854
NSCs
  • Increased levels of mitochondrial DNA damage in NSCs
LRRK2 Parkinson's R1441C 24148854
NSCs
  • Increased levels of mitochondrial DNA damage in NSCs
MeCP2 Rett Syndrome Q244X 21807996
NSCs
  • Decreased amount of TUJ1+ NSCs
Neurons
  • Impairment of neuronal maturation
iPSCs
  • Decreased formation of TuJ+ iPSCs
PANK2 Pantothenate kinase-associated neurodegeneration c.1259delG 27516453
NSCs
  • Decreased heme levels in NSCs
Neurons
  • Decreased Basal Oxygen Consumption Rate (OCR) in neurons
  • Decreased ROS levels in neurons after treatment with CoA
  • Decreased aconitase activity in neurons
  • Decreased average maximal firing rate in neurons
  • Decreased ferritin levels in neurons
  • Decreased glutathione levels in neurons
  • Decreased loss of neurons after treatment with CoA
  • Decreased mitochondrial membrane potential in neurons
  • Decreased peak amplitudes of voltage-dependent Na+ currents in neurons
  • Increased ROS levels in basal conditions in neurons
  • Increased TfR1 levels in neurons
  • Increased mature firing rate of neurons after treatment with CoA
  • Increased proportion of altered mitochondria in neurons
  • Increased risk of neuronal death
  • Presence of abnormal firing activity in neurons after injection of suprathreshold current steps
  • Presence of abnormal mitochondrial morphology (swollen, damaged cristae) in neurons
PANK2 Pantothenate kinase-associated neurodegeneration c.569insA 27516453
NSCs
  • Decreased heme levels in NSCs
Neurons
  • Decreased Basal Oxygen Consumption Rate (OCR) in neurons
  • Decreased ROS levels in neurons after treatment with CoA
  • Decreased aconitase activity in neurons
  • Decreased average maximal firing rate in neurons
  • Decreased ferritin levels in neurons
  • Decreased glutathione levels in neurons
  • Decreased loss of neurons after treatment with CoA
  • Decreased mitochondrial membrane potential in neurons
  • Decreased peak amplitudes of voltage-dependent Na+ currents in neurons
  • Increased ROS levels in basal conditions in neurons
  • Increased TfR1 levels in neurons
  • Increased mature firing rate of neurons after treatment with CoA
  • Increased proportion of altered mitochondria in neurons
  • Increased risk of neuronal death
  • Presence of abnormal firing activity in neurons after injection of suprathreshold current steps
  • Presence of abnormal mitochondrial morphology (swollen, damaged cristae) in neurons
PSEN1 Alzheimer's A246E 24416243
NSCs
  • Increased Aβ42/40 ratio in NSCs
PSEN1 Alzheimer's A246E 25285942
NSCs
  • Decreased Aβ42:Aβ40 ratio in NSCs after treatment with γ-secretase modulator
Neurons
  • Decreased Aβ42:Aβ40 ratio in neurons after treatment with γ-secretase modulator
  • Decreased amount of Aβ 38 in neurons after treatment with γ-secretase inhibitor
  • Decreased amount of Aβ 40 in neurons after treatment with γ-secretase inhibitor
  • Decreased amount of Aβ 42 in neurons after treatment with γ-secretase inhibitor
  • Decreased amount of Aβ38 in neurons after treatment with γ-secretase modulator
  • Decreased amount of Aβ40 in neurons after treatment with γ-secretase modulator
  • Decreased amount of Aβ42 in neurons after treatment with γ-secretase modulator
  • Decreased amount of extracellular Aβ 40 by neurons after treatment with γ-secretase modulator
  • Decreased amount of extracellular Aβ 42 by neurons after treatment with γ-secretase modulator
  • Decreased amount of total Aβ in neurons after treatment with γ-secretase inhibitor
  • Increased Aβ42/40 ratio in neurons
  • Increased amount of Aβ42 in neurons
  • Increased production of Aβ37 in neurons after treatment with γ-secretase modulator
  • Increased production of Aβ39 in neurons after treatment with γ-secretase modulator
iPSCs
  • Decreased Aβ42:Aβ40 ratio in iPSCs after treatment with γ-secretase modulator
  • Decreased amount of Aβ38 in iPSCs after treatment with γ-secretase modulator
  • Decreased amount of Aβ40 in iPSCs after treatment with γ-secretase modulator
  • Decreased amount of Aβ42 in iPSCs after treatment with γ-secretase modulator
UNC-93-B Childhood HSE (Not Specified) 23103873
Astrocytes
  • Impaired induction of IFN-β and IFN-γ by astrocytes after exposure to polyinosinic:polycytidylic acid
NSCs
  • Impaired induction of IFN-β and IFN-γ by NSCs after exposure to polyinosinic:polycytidylic acid
  • Impaired reductions in HSV-1-GFP replication levels in NSCs after treatment with polyinosinic:polycytidylic acid
Neurons
  • Decreased susceptibility of neurons to HSV-1 infection after treatment with exogenous IFN-Aβ
  • Impairment of neuronal induction of IFN-β and IFN-γ in response to HSV-1 infection
  • Impairment of neuronal induction of IFN-β and IFN-γ in response to polyinosinic:polycytidylic acid
  • Increased replication speed of HSV-1-GFP in neurons
  • Increased susceptibility of neurons to HSV-1 infection
  • Rescued replication speed of HSV-1-GFP in neurons after treatment with IFN-α2b
  • Rescued replication speed of HSV-1-GFP in neurons after treatment with IFN-β
Oligodendrocytes
  • Decreased susceptibility of oligodendrocytes to HSV-1 infection after treatment with exogenous IFN-α/ β
  • Impaired induction of IFN-β and IFN-γ by oligodendrocytes after exposure to polyinosinic:polycytidylic acid
  • Impaired induction of IFN-β and IFN-γ by oligodendrocytes following HSV-1 infection
  • Impaired induction of MX1 (IFN-inducible molecule) by oligodendrocytes following HSV-1 infection
  • Impaired induction of NF-κB1 and MX1 (IFN-inducible molecule) by oligodendrocytes after exposure to polyinosinic:polycytidylic acid
  • Increased replication speed of HSV-1-GFP in oligodendrocytes
  • Increased susceptibility of oligodendrocytes to HSV-1 infection
  • Rescued replication speed of HSV-1-GFP in oligodendrocytes after treatment with IFN-α2b
  • Rescued replication speed of HSV-1-GFP in oligodendrocytes after treatment with IFN-β
Gene Disease Mutation Reference Gene Ontology & Molecular Pathways
Key:
Cell Type
APP Alzheimer's Duplication 25285942 None
C9ORF72 Frontotemporal Dementia/Amyotrophic Lateral Sclerosis GGGGCC repeats 24154603 None
CACNA1C Timothy Syndrome Cav1.2 22120178 None
CYFIP1 Schizophrenia 15q11.2 24996170 None
DMPK Dystrophia Myotonica Type 1 (Not Specified) 23550732 None
GBA1 Gaucher Disease N370S 25740845 None
GBA1 Gaucher Disease IVS2+1G>T / L444P 25740845 None
HTT Huntington's Disease CAG Repeats 21037797 None
HTT Huntington's Disease CAG Repeats 22748967
iPSCs
HTT Huntington's Disease CAG Repeats 22748968
NSCs
LRRK2 Parkinson's G2019S 23075850
NSCs
iPSCs
LRRK2 Parkinson's G2019S 24148854 None
LRRK2 Parkinson's R1441C 24148854 None
MeCP2 Rett Syndrome Q244X 21807996 None
PANK2 Pantothenate kinase-associated neurodegeneration c.1259delG 27516453 None
PANK2 Pantothenate kinase-associated neurodegeneration c.569insA 27516453 None
PSEN1 Alzheimer's A246E 24416243 None
PSEN1 Alzheimer's A246E 25285942 None
UNC-93-B Childhood HSE (Not Specified) 23103873 None