Table 2.
Disease phenotypes identified in the iPSC lines derived from LSD patient cells
| Disease | Original cell (mutation)a | Differentiated cells | Disease phenotype described | References |
|---|---|---|---|---|
| Fabry disease | GM00107 (Trp162Ter) | iPSCs | Gb3 accumulation | 82 |
| Gaucher disease | ||||
| (N370S/N370S; L444P/RecNciI; L444P/L444P) | Macrophages | Sphingolipids accumulation | 83 | |
| (L444P/G202R) | Neurons/macrophages | Sphingolipids accumulation | 84 | |
| (N370S/N370S; N370S/c.84dupG; IVS2 +1G > A/L444P) | Macrophages | Glucocerebroside and glucosylsphingosine | 85 | |
| D(N370S/N370S; L444P/L444P) | Dopaminergic neurons | Glucosylceramide and a-synuclein, autophagic and lysosomal defects | 86 | |
| (N370S/N370S; W184R/D409H, L444P/RecNci1; L444P/L444P) | Hematopoietic progenitors and aberrant myelopoiesis | Decreased erythroid potential | 87 | |
| GM1 gangliosidosis | GM02439, GM05652 | Neural progenitor | GM1 ganglioside accumulation | 88 |
| Mucopolysaccharidosis I | (Y167X/W402X; W402X/W402X) | Hematopoietic stem cells | Glycosaminoglycan accumulation | 89 |
| Mucopolysaccharidosis IIIB | ((c.531+1G>C); R482W/R482W) | Neural stem cells/neurons | Glycosaminoglycan accumulation | 90 |
| Mucopolysaccharidosis VII | GM02784 | Neuron stem cells | 91 | |
| Neuronal ceroid lipofuscinosis, CLN2 | (IVS5/E6) | Neural progenitor cells, neurons | Increased lipid droplets, increased vacuoles | 101 |
| Neuronal ceroid lipofuscinosis, CLN3 | (Δex7/8/Δ7/8; IVS13/E15) | Neural progenitor cells, neurons | Increased LAMP-1 staining, increased vacuoles | 101 |
| Niemann–Pick C | ||||
| (I1061T/P237S) | Neural stem cells/neurons | Cholesterol accumulation | 92 | |
| (1628delC/E612D) | Neurons | Cholesterol accumulation | 95 | |
| (I1061T/I1061T) | Neural stem cells/neurons | WNT signaling pathway abnormality | 93 | |
| GM18453 (I1061T); GM03123(P237S/I1061T); GM22870 ((1920 delG)/1009G > A); GM22871 ((1920 delG)/1009G > A) | Hepatocytes/neurons | Autophagic flux defect | 94 | |
| Pompe disease | ||||
| (D645E/D645E; D645E/D645E; c.1935C.A/c.2040 +1G.T; Y354X/D645E) | Cardiomyocytes | Glycogen accumulation, low GAA activity | 97 | |
| (c.796 C>A and c.1316 T>A) | Cardiomyocytes | Glycogen accumulation, low GAA activity | 99 | |
| GM20124; GM11661 | iPSCs | Glycogen accumulation | 96 | |
| GM20089 (Δex18/Δex18); GM04912 (1441delT/2237G3A) | Cardiomyocytes | Golgi-based glycosylation deficit | 98 | |
a
The GM number indicates that the patient cell line was obtained from Coriell Cell Repositories and mutations are listed on their website (https://catalog.coriell.org/), but in some cases, the mutations were not reported.