Huntington’s disease (HD) human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the disease study (molecular mechanisms, large-scale drug screening, and toxicological studies). iPSC lines ICGi007-A (https://hpscreg.eu/cell-line/ICGi007-A) and ICGi018-A (https://hpscreg.eu/cell-line/ICGi018-A) from HD patients with 47 and 38 CAG triplets respectively in the HTT gene were generated from blood mononuclear cells by non-integrating episomal vectors. The iPSC lines retained the mutation, expressed pluripotency markers, had a normal karyotype and displayed in vitro differentiation to the cell types of the three germ layers.

Diseased iPSC lines - Huntington’s disease (47 CAG)
Characterization of ICGi007-A iPSC cell line. A. Morphology of iPSC colony. B. Immunofluorescence staining for pluripotency markers NANOG, OCT3/4, SOX2, TRA-1-60. C. Quantitative analysis expression of pluripotency markers (NANOG, OCT4, SOX2) by RT-qPCR. D. Karyotype (G-banding) analysis (46, XX). E. Immunofluorescence staining for differentiation markers: VIM and COLL IV (mesoderm); NF200 (ectoderm); CK18 and GATA6 (endoderm). F. DNA fragment analysis of PCR-product detected 17 and 47 CAG repeats in PBMCs and ICGi007-A. All scale bars - 100 μm.

Huntington’s disease (HD) human induced pluripotent stem cells (iPSCs) represent a useful and valid model for the disease study (molecular mechanisms, large-scale drug screening, and toxicological studies). iPSC lines ICGi007-A (https://hpscreg.eu/cell-line/ICGi007-A) and ICGi018-A (https://hpscreg.eu/cell-line/ICGi018-A) from HD patients with 47 and 38 CAG triplets respectively in the HTT gene were generated from blood mononuclear cells by non-integrating episomal vectors. The iPSC lines retained the mutation, expressed pluripotency markers, had a normal karyotype and displayed in vitro differentiation to the cell types of the three germ layers.

Huntington’s disease (38 CAG)
Characterization of ICGi018-A iPSC cell line. A. Morphology of iPSC colony. B. Alkaline phosphatase staining. C. Quantitative analysis of pluripotency marker expression (SOX2, NANOG, OCT4) by qPCR. D. Immunofluorescence staining for pluripotency markers SSEA-4, OCT4, SOX2 and TRA-1-60. E. In vitro differentiation. Immunofluorescence staining for differentiation markers: NF200 and TUBB3 (ectoderm); aSMA and COLL I (mesoderm); HNF3b and TBX3 (endoderm). F. Karyotype (G-banding) analysis (46,XX). G. DNA fragment analysis of PCR-products detected 18 and 38 CAG repeats in PBMCs and ICGi018-A. All scale bars are 100 μm.