A Marfan syndrome human induced pluripotent stem cell line with a heterozygous FBN1 c.4082G &gt; A mutation, ISMMSi002-B, for disease modeling

Klein, Sandra; Dvornik, Jill; Yarrabothula, Akshitha R.; Schaniel, Christoph

doi:10.1016/j.scr.2017.06.016

Cited by 10 publications

(8 citation statements)

References 3 publications

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“…qRT-PCR was performed on an ABI7500 PCR machine using the SYBR Green PCR Master Mix (Toyobo Co. Ltd., Osaka, Japan). The primer sequences are shown in Table 1 [14, 15, 16, 17, 18, 19, 20, 21, 22]. Expression differences were calculated by the 2-Δ⁢Δ⁢Ct method [23].…”

Section: Methodsmentioning

confidence: 99%

α2δ1 may be a potential marker for cancer stem cell in laryngeal squamous cell carcinoma

Huang

Zhao

et al. 2019

CBM

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Cancer stem cells (CSCs) have the ability to dictate tumor initiation, recurrence, and metastasis. Here, we examined the expression of a 2 1 in laryngeal cancer tissues and further determined the effect of 2 1 on the migratory ability and tumorigenicity of laryngeal cancer cells. Immunofluorescence staining revealed that 2 1 was positive in 13 (13/16, 81.25%) cases in laryngeal squamous cell carcinoma (LSCC) tissues, 7 (7/16, 43.75%) cases in paracancerous tissues and only 2 (2/16, 12.5%) cases in normal tumor tissues. Our quantitative RT-PCR assays further showed that 2 1 LSCC cells expressed significantly higher levels of stem cell-associated genes and drug efflux and resistance genes versus 2 1 cells. Sphere-forming assays demonstrated higher sphere-forming efficiency in the 2 1 versus 2 1 subpopulation. Our Matrigel assays showed that 2 1 cells exhibited significantly greater invasive and migratory ability than 2 1 cells. Furthermore, the percentage of purified 2 1 in TU686 and TU212 cells treated cisplatin or paclitaxel was significantly higher than that of the control group. Tumor xenograft assays revealed that the tumorigenicity of 2 1 cells was much higher than 2 1 cells. In conclusion, a 2 1 subpopulation with CSC-like property was present in laryngeal cancer and possessed high self-renewal activity and was sufficient for tumor growth, differentiation, migration, invasion, and chemotherapeutic resistance. They could represent a promising therapeutic target for LSCC.

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Section: Methodsmentioning

confidence: 99%

α2δ1 may be a potential marker for cancer stem cell in laryngeal squamous cell carcinoma

Huang

Zhao

et al. 2019

CBM

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“…Specifically, evidence that reprogrammed cells can be differentiated into osteoblasts [ 54 , 55 , 56 ], chondrocytes [ 57 , 58 , 59 , 60 ], myoblasts [ 61 ], nucleus pulposus cells [ 47 , 48 , 49 ] and tenocytes [ 62 ] has recently impacted musculoskeletal research and changed orthopedic medicine. Nevertheless, the use of iPSCs for studying the wide variety of musculoskeletal conditions has been explored to a limited extent ( Table 1 ) in comparison with conditions affecting nervous or cardiac pathologies, even when investigating genetic disorders where symptoms affect several organs or systems [ 63 , 64 , 65 , 66 ].…”

Section: Disease Modelingmentioning

confidence: 99%

“…MFS is an autosomal dominant genetic disorder of the connective tissue caused by mutations in the FIBRILLIN-1 (FBN1) gene and associated with skeletal deformities (disproportionate growth, scoliosis), among other symptoms [ 63 , 64 , 65 ]. Klein et al [ 63 ] reprogrammed skin fibroblasts derived from an MFS patient and demonstrated the presence of a mutation in the FBN1 gene in the established iPSC line by sequencing. Park et al [ 64 ] went a step further and derived iPSCs from an MFS patient with an FBN1 mutation and corrected it, thereby generating isogenic “gain-of-function” control cells for the parental MFS-iPSCs.…”

Section: Disease Modelingmentioning

confidence: 99%

Versatility of Induced Pluripotent Stem Cells (iPSCs) for Improving the Knowledge on Musculoskeletal Diseases

Sanjurjo‐Rodríguez

Castro-Viñuelas

Piñeiro-Ramil

et al. 2020

IJMS

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Induced pluripotent stem cells (iPSCs) represent an unlimited source of pluripotent cells capable of differentiating into any cell type of the body. Several studies have demonstrated the valuable use of iPSCs as a tool for studying the molecular and cellular mechanisms underlying disorders affecting bone, cartilage and muscle, as well as their potential for tissue repair. Musculoskeletal diseases are one of the major causes of disability worldwide and impose an important socio-economic burden. To date there is neither cure nor proven approach for effectively treating most of these conditions and therefore new strategies involving the use of cells have been increasingly investigated in the recent years. Nevertheless, some limitations related to the safety and differentiation protocols among others remain, which humpers the translational application of these strategies. Nonetheless, the potential is indisputable and iPSCs are likely to be a source of different types of cells useful in the musculoskeletal field, for either disease modeling or regenerative medicine. In this review, we aim to illustrate the great potential of iPSCs by summarizing and discussing the in vitro tissue regeneration preclinical studies that have been carried out in the musculoskeletal field by using iPSCs.

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“…12 In vitro MFS patient-specific cell models have served as an effective tool in multiple studies of pathogenesis, drug screening, and gene-editing therapy. [33][34][35] Recent studies also utilized iPSC-derived aortic cells to investigate the pathogenesis of MFS aortopathy.…”

Section: Coculturing Of Cells To Model Cellular Crosstalkmentioning

confidence: 99%

Modeling aortic diseases using induced pluripotent stem cells

Zhu

et al. 2020

Stem Cells Translational Medicine

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Induced pluripotent stem cells (iPSCs) offer an effective platform for studies of human physiology and have revealed new possibilities for disease modeling at the cellular level. These cells also have the potential to be leveraged in the practice of precision medicine, including personalized drug testing. Aortic diseases result in significant morbidity and mortality and pose a global burden to healthcare. Their pathogenesis is mostly associated with functional alterations of vascular components, such as endothelial cells and vascular smooth muscle cells. Drugs that have been proven to be effective in animal models often fail to protect patients from adverse aortic events in clinical studies, provoking researchers to develop reliable in vitro models using human cells. In this review, we summarize the patient iPSC‐derived aortic cells that have been utilized to model aortic diseases in vitro. In advanced models, hemodynamic factors, such as blood flow‐induced shear stress and cyclic strain, have been added to the systems to replicate cellular microenvironments in the aortic wall. Examples of the utility of such factors in modeling various aortopathies, such as Marfan syndrome, Loeys‐Dietz syndrome, and bicuspid aortic valve‐related aortopathy, are also described. Overall, the iPSC‐based in vitro cell models have shown the potential to promote the development and practice of precision medicine in the treatment of aortic diseases.

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A Marfan syndrome human induced pluripotent stem cell line with a heterozygous FBN1 c.4082G > A mutation, ISMMSi002-B, for disease modeling

Cited by 10 publications

References 3 publications

α2δ1 may be a potential marker for cancer stem cell in laryngeal squamous cell carcinoma

α2δ1 may be a potential marker for cancer stem cell in laryngeal squamous cell carcinoma

Versatility of Induced Pluripotent Stem Cells (iPSCs) for Improving the Knowledge on Musculoskeletal Diseases

Modeling aortic diseases using induced pluripotent stem cells

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