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Table 3 Summary of published studies using iPSC-based models to study ASD (alphabetical order)

From: Mind the translational gap: using iPS cell models to bridge from genetic discoveries to perturbed pathways and therapeutic targets

Mutation Donors (cases/controls) Isogenic (yes/no) Class of observed “phenotypic classes” (G, R, E, S, C) References
15q13.3 6/3 No E, C Gillentine et al. [159]
16p11.2 6/3 No G, E, S Deshpande et al. [79]
22q11.2 8/7 No G Lin et al. [160]
CACNA1C 2/2 No E Krey et al. [98]
CACNA1C 2/3 No C Pasca et al. [161]
CDK5RAP2 4/4 Yes G Lancaster [60]
CHD8 2/4 Yes G Wang et al. [162]
DYRK1A 105 patients No G Courcet et al. [77]
FMR1 3/1 No E Doers et al. [97]
FMR1 1/1 Yes R Lu et al. [92]
FMR1 2/2 Yes R Sunamura et al. [90]
MECP2 2/1 No E Nageshappa [95]
Multiple genes 15/11 (53 lines) Yes E Deneault et al. [104]
Multiple genes 1/1 per gene Yes C Deneault et al. [101]
NLGN4 2/1 Yes E, S Marro et al. [163]
NRXN1 3/5 No E, C Avazzadeh et al. [106]
NRXN1 4/4 Yes E, S Flaherty et al. [164]
NRXN1 1/4 No G, E, C Lam et al. [165]
NRXN1 2/1 Yes E Pak et al. [102]
PTCHD1-AS 2/2 Yes G, E, S Ross et al. [103]
SHANK2 2/4 Yes G, E, S Zaslavsky et al. [100]
SHANK3 4/3 No S Gouder et al. [166]
SHANK3 1/1 Yes E, S Huang et al. [167]
SHANK3 2/3 Yes S Kathuria et al. [168]
SHANK3 1/1 Yes E Yi et al. [96]
UBE3A 3/4 Yes E Fink et al. [169]
UBE3A 1/1 Yes E Sun et al. [170]
Idiopathic 7/6 No G Courchesne et al. [73]
Idiopathic 5/5 No E, C DeRosa et al. [107]
Idiopathic 6/6 No R Griesi-Oliveira et al. [83]
Idiopathic 1 family No G Lewis et al. [171]
Idiopathic 3/3 No E, S Liu et al. [172]
Idiopathic 8/5 No G, E, S Marchetto et al. [69]
Idiopathic 4/8 No G, E, S Mariani et al. [145]
Idiopathic 3/3 No G, S Moore et al. [173]
Idiopathic 3/3 No G, E, S Russo et al. [152]
Idiopathic 8/5 No S Schafer et al. [174]
Idiopathic 3/3 No G Wang et al. [80]
Idiopathic/PTEN 3/15 No G Butler et al. [76]
  1. To compare observed phenotypes, they were categorized based on five “phenotypic classes”: G = cell proliferation and brain growth; R = RNA-processing; S = synapse density and dendritic arborization; E = electrophysiology; C = calcium signaling