Table 3.
Study design, cellular model, and neuronal cell types.
| Ref | Case/Control | Deletion | Model | Major Cell Type |
|---|---|---|---|---|
| [73] | AOS (n = 1) | 22q11.2 | iPSC | Forebrain glutamatergic neurons |
| AOS (n =1) COS (n = 1) Ctr (n = 2) |
- - - |
|||
| [74] | AOS (n = 1) [73] | 22q11.2 | iPSC | Early post-mitotic neurons |
| Ctr (n = 1) [73] | - | |||
| [75] | AOS (n = 2) | 22q11.2 | iPSC | Mixed early neuronal and glial cell types |
| Ctr (n = 2) | - | |||
| [76] | AOS (n = 1) | 22q11.2 | iPSC | Mixed early glutamatergic and GABAergic neurons |
| SAD (n = 3) | 22q11.2 | |||
| COS (n = 2) | - | |||
| Ctr (n = 6) | - | |||
| [77] | As in [76] | As in [76] | iPSC | As in [76] |
| + COS (n = 2) | - | |||
| + Ctr (n = 1) | - | |||
| [78] | As in [75] | As in [75] | iPSC | As in [75] |
| + Ctr (n = 1) | - | |||
| [79] | COS (n = 3) | 15q11.2 | iPSC | Rosette-derived cortical NPCs |
| Ctr (n = 5) | - | |||
| [80] | SAD (n = 1) | 15q11.2 | iPSC | Rosette derived neurons |
| Mother (n = 1) | 15q11.2 | |||
| Ctr (n = 1) | -- | |||
| [81] | Isogenic hESCs | Mutated heterogeneous | hESC | Induced glutamatergic neurons, mixed forebrain neurons |
| NRXN1 alleles | ||||
| [82] | ASD (n = 1) | 16p11.2 dup, de novo | iPSC | NPCs, dorsal forebrain neurons, up to 14 weeks maturated |
| NSD (n = 1) | 16p11.2 dup, de novo | |||
| NSD (n = 1) | 16p11.2 dup, inherited | |||
| Autism (n = 1) | 16p11.2 del, de novo | |||
| Autism (n = 1) | 16p11.2 del, unknown | |||
| Autism (n = 1) | 16p11.2 del, inherited | |||
| Ctr (n = 4) | - | |||
| [83] | COS-1 (n = 1) | 1p33 | iPSC | NPCs |
| COS-2 (n = 1) | 2p16.3 del (NRXN1) | |||
| COS-3 (n = 1) | 3p25.3 | |||
| COS-4 (n = 2) | 16p11.2 | |||
| COS-5 (n = 1) | 22q11.2 | |||
| COS-6 (n = 4) | - | |||
| Ctr (n = 10) | - | |||
| [84] | COS-1 to 4 (n = 5) | As in [83] | iPSC | NPCs, mixed glutamatergic and GABAergic forebrain neurons, Ngn2-induced excitatory neurons |
| COS-6 (n = 4) | As in [83] | |||
| Ctr (n = 8) | As in [83] | |||
| [85] | COS-1 to 5 (n = 6) | As in [83] | NPCs, mixed glutamatergic and GABAergic forebrain neurons | |
| COS-7 (n = 1) | 18q22.1 | |||
| COS-8 (n = 1) | 8q12.3, 22q11 | |||
| COS-9 (n = 1) | 15q11.2, 2p25.3 | |||
| COS-6 (n = 4) | As in [83] | |||
| COS-10 (n = 3) | - | |||
| Ctr (n = 10) | As in [83] | |||
| Ctr (n = 2) | - |
Abbreviations are: AOS, adult-onset schizophrenia; COS, childhood-onset schizophrenia; Ctr, control; n, number of case/control samples; NPC, neural progenitor cells; Ngn2, Neurogenin 2; NSD, non-spectrum disorder; Ref, reference; SAD, schizoaffective disorder; +, plus refers to new case/control samples in addition to those from the indicated reference, - refers to normal karyotype.