International Journal of Stem Cells : eISSN 2005-5447

Table. 1.

Table. 1.

Summary of diseases modeling and treatment studies applying various CRISPR/Cas systems to stem cells

CRISPR type Delivery method Type of cells Related disease Target Reference
Strategy Form Gene Related mutation
Knock-out Plasmid Electroporation ESCs Greig cephalopolysyndactylysyndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly type-A/B GLI3 Deletion in exon2 (70)
Knock-out Plasmid Electroporation ESCs Primary autosomal recessive microcephaly and premature chromosome condensation syndrome MCPH1 2 bp deletion in exon3 (71)
Knock-in Plasmid Electroporation ESCs - OCT4, PDX1 OCT4-mOrange, OCT4-eGFP, PDX1-eGFP (76)
Base editing, prime editing Plasmid Electroporation ESCs α-1 Antitrypsin deficiency SERPINA1 E342K (78)
Knock-out Plasmid Lipid-based transfection iPSCs Hemophilia A Coagulation factor VIII (F8) int1/int22 inversion (80)
Knock-in Plasmid Lipid-based transfection iPSCs Mucopolysaccharidosis type 1 Idua NeoR sequence insertion (81)
Knock-in Plasmid Lipid-based transfection iPSCs Rett syndrome MECP2 R270X (83)
Knock-in Plasmid Electroporation iPSCs Sporadic Alzheimer’s disease APOE4 R112C (84)
Knock-in Plasmid Electroporation iPSCs β-Thalassemia HBB 4 bp deletion (85)
Knock-in mRNA Lipid-based transfection iPSCs Primary hyperoxaluria type 1 AAVS1 AGXT minigene insertion (87)
Knock-in Plasmid Electroporation iPSCs Parkinson’s disease TH eGFP insertion, (72)
Knock-in Plasmid Electroporation iPSCs - PAX7 2A-GFP insertion (73)
Base editing mRNA Electroporation iPSCs Cerebral autosomaldominant arteriopathy with subcortical infarcts and leukoencephalopathy Familial hypercholesterolemia NOTCH3 LDLR R133C R595Q (90)
Knock-in base editing Plasmid Electroporation iPSCs Parkinson’s disease LRRK2 G2019S (91)
Base editing, prime editing Plasmid Electroporation iPSCs Duchenne muscular dystrophy DMD T>C (Ex50 SDS) 2 bp insertion (Ex52 reframing) (92)
Prime editing Plasmid Lipid-based transfection iPSCs Spinal muscular atrophy Intronic splicing silencer-N1 of SMN2 9 bp deletion (93)
Knock-out RNP Electroporation HSCs - DNMT3A 58 bp deletion (96)
Knock-out Plasmid Electroporation HSCs AIDS CCR5 Insertion or deletion (98)
Base editing Plasmid Electroporation HSCs Long QT syndrome Brugada syndrome KCNQ1 KCNH2 SCN5A L114P/R190Q, Y616C/Y475C, E1784K/R1879W (102)
Base editing RNP Electroporation HSCs β-Thalassemia Sickle cell disease BCL11A erythroid enhancer HBB promoter +58 C>T, −28 C>T (105)
Base editing mRNA Electroporation HSCs Sickle cell disease HBB E6V (107)
Base editing mRNA /RNP Electroporation HSCs Sickle cell disease HBB E6V (108)
Base editing Plasmid Lipid-based transfection iPSCs, MuSCs Limb-girdle muscular dystrophies SGCA A53T (110)
Prime editing Plasmid Electroporation Liver and intestinal stem cell organoids Liver cancer Congenital diarrhea Wilson disease CTNNB1 DGAT1 ATP7B 6 bp deletion, S210 deletion, S430fs (112)
Knock-in Plasmid Lipid-based transfection Intestinal stem cell organoids Cystic fibrosis CFTR F508 deletion (113)
Prime editing Plasmid Electroporation Hepatocyte and colonic stem cell organoids Intestinal stem cell organoids Hepatocellular carcinoma/ cancer Cystic fibrosis TP53 CFTR R175H/R249S/Y220C, F508del/R785X (114)

CRISPR: clustered regularly interspaced short palindromic repeats, ESCs: embryonic stem cells, iPSCs: induced pluripotent stem cells, RNP: ribonucleoprotein, HSCs: hematopoietic stem cells, MuSCs: muscle stem cells.

International Journal of Stem Cells 2024;17:1-14 https://doi.org/10.15283/ijsc23030
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