An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 41-year-old male patient with hypertrophic cardiomyopathy who carries a G3755A heterozygote mutation in the MYH6 gene. The generated iPSC line expressed pluripotency markers, exhibited a normal karyotype, presented the specific mutation, and demonstrated differentiation potential into three germ layers in vitro.

Hypertrophic cardiomyopathy (HCM) is a heterogeneous myocardial disease often caused by sarcomeric gene mutations. MYH7 is one of the most common genes associated with HCM. In this study, we generated a human induced pluripotent stem cell (iPSC) line ZZUNEUi020-A from peripheral blood mononuclear cells of a female HCM patient with the p. R719Q (c. 2156G > A) mutation in MYH7. This cell line expressed pluripotency markers, showed normal female karyotype and could differentiate into all three germ layers in vitro.

Focal Segmental Glomerular Sclerosis (FSGS) is a glomerular disease which can be classified into primary, secondary, genetic, and unknown forms. WT1 mutation has been shown to be associated with this disorder. Recently, we identified a mutation in the Zinc finger C2H2 domain of WT1 gene in a patient with FSGS who also carried a family history of end-stage renal disease (ESRD). The Peripheral Blood Mononuclear Cells (PBMCs) of the patient were obtained and a line of induced pluripotent stem cells (iPSCs) was successfully generated. The iPSC line will be useful for further study of the pathogenesis and drug screening for FSGS.

PBMCs were collected from a patient with a novel GLA gene mutation (c.140G > A) which contributed to Fabry disease. Subsequently, an induced pluripotent stem cell (iPSC) line was derived using an episomal reprogramming method that transfer the reprogramming plasmids expressing OCT3/4, SOX2, KLF4, LIN28 and L-MYC into the PBMCs. The expected mutation in the iPSC line was confirmed by Sanger sequencing, while the pluripotency status was validated by immunofluorescence assay and flow cytometry for pluripotency markers, as well as teratoma formation.

Induced pluripotent stem cells (iPSCs) have differentiation potential into different somatic cell types in vitro and are a useful tool to investigate pathomechanistic and cellular processes. In this study, we generated human induced pluripotent stem cells (iPSC) ZZUNEUi012-A from an apparently healthy female individual using an integration-free reprogramming method. The generated hiPSC line was pluripotent and had normal karyotype, showed robust expression of pluripotency markers and could differentiate into all three germ layers in vitro.

Hypertrophic cardiomyopathy (HCM) is the most common monogenic cardiovascular disorder. In this study, we generated human induced pluripotent stem cells (iPSC) ZZUNEUi007-A from dermal fibroblasts of an HCM patient with the p. R663H (c. 1988 G > A) mutation in MYH7. The generated hiPSC line had normal karyotype, showed robust expression of pluripotency markers and could differentiate into all three germ layers in vivo.