Table 2.

Summary of studies investigating known diabetes variants for T1D, T2D, and MD

Study reference	Diabetic state	Variant of interest	Cell type generated	Genetic engineering	In vivo transplantation	Additional notes
Lithovius et al. (2020)38	CHI/MODY	SUR1	β-like cells	yes, CRISPR/Cas9 to correct mutation	yes, study in vivo cells	–
Maxwell et al. (2020)17	WS	WFS1	SC-β cells	yes, CRISPR/Cas9 to correct variant	yes, reverse preexisting diabetes	Single-cell RNA-seq
Cardenas-Diaz et al. (2019)39	MODY3	HNF1A	β-like cells	yes, CRISPR/Cas9 to introduce HET and homozygous KO mutations	no	microarray of INS-GFP+NKX6.1+ cells
Wang et al. (2019)33	T2D	PDX1	β-like cells	yes, CRISPR/Cas9 to introduce HET and homozygous KO mutations in iPSC line	no	microarray, RNA-seq, and ChIP-seq data from PPs
Dwivedi et al. (2019)34	T2D	ZnT8	β-like cells	yes, CRISPR/Cas9 to introduce protective alleles into SLC30A8 locus	yes, study in vivo cells	RNA-seq
Balboa et al. (2018)15	NeoD	INS	β-like cells	yes, CRISPR/Cas9 to correct variant	yes, study in vivo cells	single-cell RNA-seq
Kishore et al. (2020)40	adult-onset diabetes	GATA6	β-like cells	yes, CRISPR/Cas9 to correct variant	no	ChIP-qPCR
Amin et al. (2018)35	T1D, T2D, NeoD	GLIS3	SC-β cells	yes, CRISPR/Cas9 to introduce GLIS3 mutations	yes, study in vivo cells	chemical screen, RNA-seq of sorted β sorted cells
Ma et al. (2018)16	NeoD	INS	β-like cells	yes, CRISPR/Cas9 correction of variant	yes, prevent diabetes onset	–
Stepniewski et al. (2015)41	MODY3	HNF1A	β-like cells	–	yes, tested iPSC tumor formation	–
Shang et al. (2014)42	WS	WFS1	insulin-producing cells	WT WFS1 lentivirus to correct variant	yes, prevent diabetes onset	tested ER chaperone drugs
Teo et al. (2013)43	MODY1	HNF4A	–	–	–	–
	MODY1	HNF4A	–	–	–	–
	MODY2	GCK	–	–	–	–
	MODY3	HNF1A	–	–	–	–
	MODY5	HNF1B	–	–	–	–
	MODY5	HNF1B	–	–	–	–
	MODY8	CEL	–	–	–	–