Hypertrophic cardiomyopathy is the commonest monogenic cardiomyopathy in humans and was reported to be associated with ALPK3 gene mutation. We report the generation and characterization of the human induced pluripotent stem cell (iPSC) line ZZUNEUi015-A, which was derived from a patient with a heterozygous mutation in ALPK3 gene (c.1013 T > C) and diagnosed with hypertrophic cardiomyopathy. The ZZUNEUi015-A line maintains the morphology of stem cells, has pluripotency and normal karyotype, and differentiated into three germ layers in vitro.

A 25-years-old hypertrophic cardiomyopathy male patient donated his peripheral blood mononuclear cells (PBMCs) with heterozygote mutation in theTNNT2 gene. We generated induced pluripotent stem cell (iPSC) with normal karyotypic and expressing NANOG, Lin28, GDF3 and DNMT3. The iPSC line has demonstrated pluripotency by differentiating into three germ layers in vitro. The ZZUNEUi021-A would serve as an in vitro model for loss of TNNT2 function.

Dilated cardiomyopathy (DCM) is the commonest type of cardiomyopathy. In this study, peripheral blood mononuclear cells (PBMCs) were isolated from a DCM patient with the p. Glu12513fs(c.37537delG) mutation in TTN and were reprogrammed to human induced pluripotent stem cells (iPSCs). The ZZUNEUi017-A iPSC line expressed pluripotency markers, exhibiting a normal male karyotype (46, XY) and demonstrating differentiation potential into three germ layers in vitro.

HCM is one of the most common inheritable cardiac disease. In our study, we established a human-induced pluripotent stem cells (hiPSCs) line (ZZUNEUi016-A) from a hypertrophic cardiomyopathy patient with the pathogenic heterozygote mutation in MYH7 gene. ZZUNEUi016-A expressed pluripotency markers with normal karyotype and showed the ability to differentiate into all three germ layers in vitro.

The loss of function of the COL1A2 gene can result in osteogenesis imperfecta (OI) types I, II, III, and IV and Ehlers-Danlos syndrome (cardiac valvular and arthrochalasia type).To further investigate the significance of COL1A2 in osteogenesis imperfecta and cardiac valve disease, we created a homozygous COL1A2-/- human embryonic stem cell line (WAe009-A-72) using CRISPR/Cas9. In vivo, the WAe009-A-72 cell line retained typical colony form, a normal karyotype, and robustly expressed pluripotency markers while differentiating into all three germ layers. This cell line is a potential tool for investigating the role of the COL1A2 gene in associated disorders.

Mutations in Junctophilin-2(JPH2) gene is the cause of hypertrophic cardiomyopathy (HCM) and leading inherited cause of left ventricular hypertrophy and myofilaments disarray. JPH2 protein, a member of the Junctophilin family, is mainly expressed in heart and plays an important role in E-C coupling. We have generated a homozygous JPH2 knockout (JPH2-KO) human embryonic stem cell (hESC) line using an episomal vector-based CRISPR/Cas9 system. This JPH2-KO hESC line maintained stem cell like morphology, pluripotency, normal karyotype and could differentiate into all three germ layers in vivo.

The transient receptor potential cation channel subfamily M member 8 (TRPM8) is a kind of non-selective cation channel which controls Ca2+ homeostasis. Mutations in TRPM8 were related to dry eye diseases (DED). Here we constructed a TRPM8 knockout cell line WAe009-A-A from the original embryonic stem cell line H9 using CRISPR/Cas9 technology, which maybe helpful for exploring the pathogenesis of DED. WAe009-A-A cells possess stem cell morphology and pluripotency as well as normal karyotype, and have the ability of differentiating into three germ layers in vitro.

Induced pluripotent stem cells (iPSCs) can be used to generate different types of somatic cells in vitro and are a useful tool for investigating drug and disease mechanisms. Here, we generated human induced pluripotent stem cell (iPSC) line ZZUNEUi009-A from an apparently healthy 28-year-old female by reprogramming peripheral blood mononuclear cells with non-integrating vector. The generated iPSCs was pluripotent, maintained a stable karyotype, and could generate the three layers (ectoderm, mesoderm, and endoderm) in vitro.

Hypertrophic cardiomyopathy (HCM) is the most common heterogeneous myocardial disease. MYBPC3 variants are the leading cause of HCM. In the present study, a human induced pluripotent stem cell (iPSC) line ZZUNEUi025-A was generated from peripheral blood mononuclear cells of a male HCM patient with c. 772+1G > A in MYBPC3 gene. This cell line expressed pluripotency markers, had normal male karyotype and could differentiate into three germ layers in vitro.

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.

TGF-β-activated kinase 1 binding protein 2 (TAB2) is an intermediate protein that connects TNFR1 and other receptor signals to the TGF-β-activated kinase 1 (TAK1) signaling complex. TAB2 has been proved clinically relevant to congenital heart defects (CHD) and cardiomyopathy. In this study, we created a TAB2 knockout human embryonic stem cell line by CRISPR/Cas9 technology. The WAe009-A-Z cell line displayed stem cell morphology, pluripotency and normal karyotype, which could develop into three germ layers in vitro.

Urine cells (or renal tubular cells) can be isolated from human urine samples efficiently. This noninvasive and cost-effective method to collect biological sample provide us favorable access to donor cells from human. In the present study, we generate ZZUNEUi022-A, a urine cells-derived induced pluripotent stem cell (iPSC) line, from a 29-year-old healthy male via Sendai virus delivery system. ZZUNEUi022-A showed stable karyotype, and could differentiate into three germ layers (ectoderm, mesoderm, and endoderm) readily in an embryoid body formation model.

Inherited antithrombin (AT) deficiency is an autosomal dominant disorder associated with SERPINC1 mutations. In this study, we generated a human induced pluripotent stem cell (iPSC) line ZZUNEUi014-A from peripheral blood mononuclear cells of a female AT deficiency patient with the p. W27X (c. 80G > A) mutation in SERPINC1. This cell line expressed pluripotency markers, showed normal female karyotype and could differentiate into all three germ layers in vitro.

Dilated cardiomyopathy (DCM) is defined by left ventricular (or biventricular dilation) and systolic dysfunction, which eventually develops into congestive heart failure and arrhythmia. Vinculin is a membrane-associated protein, which functions to transmit contractile force. Defects in vinculin have been reported to be associated with DCM and hypertrophic cardiomyopathy. A human induced pluripotent stem cell (iPSC) line (ZZUNEUi026-A) was generated from a DCM patient carrying heterozygous Vinculin mutant (c.A625 > T; p.Met209 > Leu). The cell line was derived from peripheral blood mononuclear cells by nonintegrative Sendai virus. ZZUNEUi026-A showed pluripotency markers and normal karyotype, and it could differentiate into three germ layers in vitro.

Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease often caused by sarcomeric gene mutations. MYBPC3 is one of the most common genes associated with HCM. In this study, we generated a human induced pluripotent stem cell line ZZUNEUi028-A from a 19-year-old male HCM patient with c. 1504C → T in MYBPC3 gene using non-integrative Sendai viral reprogramming technology. This cell line expresses pluripotency markers, exhibits a normal male karyotype (46, XY) and can differentiate into all three germ layers in vitro. ZZUNEUi028-A can serve as a cell disease model in the understanding of HCM pathogenesis.

Long QT syndrome is one of the most common hereditary arrhythmias. Mutations in KCNH2 can cause long QT syndrome type 2 (LQT2). In this study, we generated a human induced pluripotent stem cell line ZZUNEUi027-A from a LQT2 female patient with c. 128A → G in KCNH2 gene using non-integrative Sendai viral reprogramming technology. This cell line expresses pluripotency markers, exhibits a normal female karyotype (46, XX) and could differentiate into all three germ layers in vitro. ZZUNEUi027-A can serve as a cell disease model in the understanding of LQT2 pathogenesis.

Marfan syndrome (MFS) is a heritable connective tissue disease caused by mutations in FBN1, encoding the extracellular matrix protein fibrillin-1. In this study, we generated human induced pluripotent stem cells (iPSCs) from dermal fibroblasts of an MFS patient with the p. E2130K (c. 6388G > A) mutation. The generated hiPSC line had a normal karyotype, showed robust expression of pluripotency markers and was able to differentiate into all three germ layers in vivo. This cell line can provide a platform for understanding the pathogenic mechanisms of MFS related to FBN1 mutations. Resource table.

Toll-like receptor 4 (TLR4) is a pattern recognition receptor (PRRS) and an important protective immune receptor. TLR4 deficiency can lead to Inflammatory bowel disease. To explore the role of TLR4, we used CRISPR/Cas9 system to produce TLR4 compound heterozygous knockout embryonic stem cells in H9 cell line. The WAe009-A-N has a compound heterozygous 7 bp deletion/8 bp deletion in TLR4 exon 3, which resulted in a frameshift in the translation of TLR4, and TLR4 protein wasn't detectable in this cell line. In addition, the WAe009-A-N with normal karyotype can express pluripotent markers and differentiate into three germ layers in vitro.

Dilated cardiomyopathy (DCM) is a nonischaemic heart muscle disease with structural and functional myocardial abnormalities. TTN truncating mutations are a common cause of DCM, occurring in ∼25% of familial cases of DCM and in 18% of sporadic cases. In this study, we generated a human induced pluripotent stem cell line ZZUNEUi023-A from peripheral blood mononuclear cells of a Kazakh DCM patient with the p. Arg26562Ter (c. 79684C>T) mutation in TTN using non-integrative Sendai virus. This cell line expressed pluripotency markers, showed normal male karyotype and could differentiate into all three germ layers in vitro.