Generation of induced pluripotent stem cell line-NTUHi001-A from a premature ovarian failure patient with Turner's syndrome mosaicism

Chen, Lu; Chen, Yu An; Syu, Shih Han; Lu, Huai En; Ho, Hong Nerng; Chen, Shee‐Uan

doi:10.1016/j.scr.2019.101422

Cited by 3 publications

(1 citation statement)

References 3 publications

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“…Those who survive after birth, as called Turner syndrome (TS) patients, are likely to be suffered from specific dysmorphic stigmata, short stature, hypogonadism, and renal dysfunctions, cardiac diseases, skeletal defects, endocrine failure, and metabolic deficiency. Several studies have successfully generated TS-iPSCs (Li et al, 2012 ; Parveen et al, 2017 ; Luo et al, 2018 ; Lu et al, 2019 ). TS-iPSCs were examined their global gene expression patterns (Zhang et al, 2013 ).…”

Section: Studies Of Abnormal Chromosomal Diseases Using Patient-specimentioning

confidence: 99%

Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells

Hayashi

Takami

Matsuo-Takasaki

2020

Front. Cell. Neurosci.

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Chromosomal abnormality causes congenital and acquired intractable diseases. In general, there are no fundamental treatments for these diseases. To establish platforms to develop therapeutics for these diseases, patient-derived induced pluripotent stem cells (iPSCs) are highly beneficial. To study abnormal chromosomal diseases, it is often hard to apply animal disease models because the chromosomal structures are variable among species. It is also difficult to apply simple genome editing technology in cells or individuals for abnormal chromosomes. Thus, these patient-derived iPSCs have advantages for developing disease models with multiple cell and tissue types, which are typically seen in the symptoms of abnormal chromosomal diseases. Here we review the studies of patient-derived iPSCs carrying abnormal chromosomes, focusing on pluripotent state and neural lineages. We also discuss the technological advances in chromosomal manipulations toward establishing experimental models and future therapeutics. Patient-derived iPSCs carrying chromosomal abnormality are valuable as cellular bioresources since they can indefinitely proliferate and provide various cell types. Also, these findings and technologies are important for future studies on elucidating pathogenesis, drug development, regenerative medicine, and gene therapy for abnormal chromosomal diseases.

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Section: Studies Of Abnormal Chromosomal Diseases Using Patient-specimentioning

confidence: 99%

Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells

Hayashi

Takami

Matsuo-Takasaki

2020

Front. Cell. Neurosci.

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Competing endogenous RNA network analysis of Turner syndrome patient-specific iPSC-derived cardiomyocytes reveals dysregulation of autosomal heart development genes by altered dosages of X-inactivation escaping non-coding RNAs

Luo,

Chen,

et al. 2023

Stem Cell Res Ther

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Background A 45,X monosomy (Turner syndrome, TS) is the only chromosome haploinsufficiency compatible with life. Nevertheless, the surviving TS patients still suffer from increased morbidity and mortality, with around one-third of them subjecting to heart abnormalities. How loss of one X chromosome drive these conditions remains largely unknown. Methods Here, we have generated cardiomyocytes (CMs) from wild-type and TS patient-specific induced pluripotent stem cells and profiled the mRNA, lncRNA and circRNA expression in these cells. Results We observed lower beating frequencies and higher mitochondrial DNA copies per nucleus in TS-CMs. Moreover, we have identified a global transcriptome dysregulation of both coding and non-coding RNAs in TS-CMs. The differentially expressed mRNAs were enriched of heart development genes. Further competing endogenous RNA network analysis revealed putative regulatory circuit of autosomal genes relevant with mitochondrial respiratory chain and heart development, such as COQ10A, RARB and WNT2, mediated by X-inactivation escaping lnc/circRNAs, such as lnc-KDM5C-4:1, hsa_circ_0090421 and hsa_circ_0090392. The aberrant expressions of these genes in TS-CMs were verified by qPCR. Further knockdown of lnc-KDM5C-4:1 in wild-type CMs exhibited significantly reduced beating frequencies. Conclusions Our study has revealed a genomewide ripple effect of X chromosome halpoinsufficiency at post-transcriptional level and provided insights into the molecular mechanisms underlying heart abnormalities in TS patients.

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Current Status of Stem Cells in the Treatment of Premature Ovarian Failure

Ji,

Hu,

Liu

et al. 2024

JBM

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Generation of induced pluripotent stem cell line-NTUHi001-A from a premature ovarian failure patient with Turner's syndrome mosaicism

Cited by 3 publications

References 3 publications

Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells

Studying Abnormal Chromosomal Diseases Using Patient-Derived Induced Pluripotent Stem Cells

Competing endogenous RNA network analysis of Turner syndrome patient-specific iPSC-derived cardiomyocytes reveals dysregulation of autosomal heart development genes by altered dosages of X-inactivation escaping non-coding RNAs

Current Status of Stem Cells in the Treatment of Premature Ovarian Failure

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