Generation of induced pluripotent stem cell GZHMCi001-A and GZHMCi001-B derived from peripheral blood mononuclear cells of epileptic patients with KCNC1 mutation

Liu, Nengqing; Lü, Di; Xie, Yuan; Cheng, Yusi; He, Lina; Chen, Di-Yu; Yang, Yinghong; Song, Bing; Sun, Xiaofang

doi:10.1016/j.scr.2020.101897

Cited by 4 publications

(8 citation statements)

References 3 publications

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“…After derivation on HFFs, we passaged the first hESC line analyzed, UM33-4, onto a Matrigel-coated surface and grew the cells at atmospheric oxygen concentration (20%) in mTeSR1 medium. Matrigel is a widely used extracellular matrix substrate that bypasses the need for feeder cells in culturing hESCs and mTeSR media are commonly used to culture hESCs on Matrigel 62 – 66 . In the UM33-4 hESCs, we quantified the percentage of nuclei with XIST RNA coats per colony at each passage (P) from P1 to P29 (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…hESCs grown on Matrigel vs. HFFs differ both in the culture surface as well as in the culture media used. hESCs grown on Matrigel are typically cultured in mTeSR media 62 – 66 , whereas our hESC lines grown on HFFs were cultured with a XenoFree (XF) medium (see Methods for detailed culture media composition). We therefore investigated whether culture media could underlie the differences in XIST RNA coating observed in hESCs cultured on Matrigel vs. HFFs.…”

Section: Resultsmentioning

confidence: 99%

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Preventing erosion of X-chromosome inactivation in human embryonic stem cells

et al. 2022

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X-chromosome inactivation is a paradigm of epigenetic transcriptional regulation. Female human embryonic stem cells (hESCs) often undergo erosion of X-inactivation upon prolonged culture. Here, we investigate the sources of X-inactivation instability by deriving new primed pluripotent hESC lines. We find that culture media composition dramatically influenced the expression of XIST lncRNA, a key regulator of X-inactivation. hESCs cultured in a defined xenofree medium stably maintained XIST RNA expression and coating, whereas hESCs cultured in the widely used mTeSR1 medium lost XIST RNA expression. We pinpointed lithium chloride in mTeSR1 as a cause of XIST RNA loss. The addition of lithium chloride or inhibitors of GSK-3 proteins that are targeted by lithium to the defined hESC culture medium impeded XIST RNA expression. GSK-3 inhibition in differentiating female mouse embryonic stem cells and epiblast stem cells also resulted in a loss of XIST RNA expression. Together, these data may reconcile observed variations in X-inactivation in hESCs and inform the faithful culture of pluripotent stem cells.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Preventing erosion of X-chromosome inactivation in human embryonic stem cells

et al. 2022

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“…Liu et al used peripheral blood from epilepsy patients with KCNC1 (c.959G>A) gene mutation to establish induced pluripotent stem cells (iPSCs). The iPSC of KCNC1 mutation established might be a powerful tool for drug discovery targeting KCNC1 41 …”

Section: Kcnc1 In Epilepsymentioning

confidence: 99%

“…This technique can reprogram skin fibroblast cells, urine cells, peripheral blood white blood cells, and other somatic cells into pluripotent stem cells that can differentiate into neurons, providing an important model with which to understand the pathogenesis of epilepsy and effective drug screening in the patient. In China, iPSCs have been established from epileptic patients with multiple potassium channel gene mutations, such as KCNA2 , 97 KCNB1 , 98 KCNC1 , 41 and KCNT1 99 …”

Section: A Prospective Look: the Application Of New Technologies Faci...mentioning

confidence: 99%

“…That study found that ketogenic diet therapy was a viable treatment option for KCNT1-related epilepsy, especially if the mutation site was located in the functional domain of the KCNT1 channel. 95 In China, KCNB1, 98 KCNC1, 41 and KCNT1. 99 With the continuous emergence of new technologies, we believe that precise diagnosis and treatment of potassium-channel-related epilepsy will be achieved.…”

Section: Kcn Ma1 In Epilepsymentioning

confidence: 99%

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Potassium channels and epilepsy

Gao

Lin

Wen

et al. 2022

Acta Neuro Scandinavica

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With the development and application of next‐generation sequencing technology, the aetiological diagnosis of genetic epilepsy is rapidly becoming easier and less expensive. Additionally, there is a growing body of research into precision therapy based on genetic diagnosis. The numerous genes in the potassium ion channel family constitute the largest family of ion channels: this family is divided into different subtypes. Potassium ion channels play a crucial role in the electrical activity of neurons and are directly involved in the mechanism of epileptic seizures. In China, scientific research on genetic diagnosis and studies of precision therapy for genetic epilepsy are progressing rapidly. Many cases of epilepsy caused by mutation of potassium channel genes have been identified, and several potassium channel gene targets and drug candidates have been discovered. The purpose of this review is to briefly summarize the progress of research on the precise diagnosis and treatment of potassium ion channel‐related genetic epilepsy, especially the research conducted in China. Here in, we review several large cohort studies on the genetic diagnosis of epilepsy in China in recent years, summarized the proportion of potassium channel genes. We focus on the progress of precison therapy on some hot epilepsy related potassium channel genes: KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNQ2, KCNQ3, KCNMA1, and KCNT1.

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Generation of induced pluripotent stem cell GZHMCi001-A and GZHMCi001-B derived from peripheral blood mononuclear cells of epileptic patients with KCNC1 mutation

Cited by 4 publications

References 3 publications

Preventing erosion of X-chromosome inactivation in human embryonic stem cells

Preventing erosion of X-chromosome inactivation in human embryonic stem cells

Potassium channels and epilepsy

Opening the KV3.1 gates: A therapeutic strategy for progressive myoclonus epilepsy type 7?

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