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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