Table 2:

Use of CRISPR/Cas9 to correct pathogenic mutations in patient-derived primary cells and iPSCs.

	Disease	Species/ Cell type	Type of mutation	Reference
1.	Facioscapulohumeral dystrophy	Human / myoblasts	Pseudogene SMCHD1 deletion	50
2.	Niemann-Pick Type C	Human/ HeLa cells	NPC1 gene disruption	51
3.	Fabry disease	Human - HEK293T and primary urinary cells	Knockout of GLA gene	52
4.	Fabry disease	Human Embryonic Stem Cell	Knockout of GLA gene	53
5.	Fabry disease	Patient-derived fibroblasts and HEK-293T cells	Knockout of GLA gene	54
6.	Fabry disease	Human-induced pluripotent stem cells/ Fibroblast	Knockout of GLA gene	55
7.	Sickle cell disease	Human/ hematopoietic stem and progenitor cells from peripheral blood or bone marrow	HBB gene correction	56
8.	Sickle cell disease	Human cell lines	HBB gene correction	57
9.	Sickle cell disease	Induced pluripotent stem cells (iPSCs)	HBB gene correction	58
10.	Sickle cell disease	Patient-derived hematopoietic stem/progenitor cells	Insertion/ deletion in HBG gene	59
11.	Sickle cell disease	Human hematopoietic stem and progenitor cells	HBG1/HBG2 gene disruption	60
12.	Chronic granulomatous disease	Human hematopoietic cells and induced pluripotent stem cells (iPSCs)	CYBB and NCF1 gene correction	61, 62
13.	Junctional epidermolysis bullosa	Mouse/ Keratinocytes	LAMB3 gene correction	63
14.	Cockayne syndrome	Human induced pluripotent stem cells (iPSCs) from fibroblasts	ERCC6 gene correction	64
15.	Limb-Girdle Muscular Dystrophy 2G (LGMD2G) and Hermansky-Pudlak Syndrome Type 1 (HPS1)	LGMD2G iPSC-derived myotubes and HPS1 patient-derived B-lymphoblastoid cell line	TCAP gene correction	65