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Generation of a PDK-1 knockout human embryonic stem cell line by CRISPR/(WAe009-A-2K) Cas9 editing 通过CRISPR/(WAe009-A-2K) Cas9编辑生成PDK-1敲除的人胚胎干细胞系
IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-28 DOI: 10.1016/j.scr.2024.103642
Amina Saleem , Mingyu Wei , Muhammad Khawar Abbas , Siyao Zhang , Jiaqi Fan , Yang Xian , Hongfeng Jiang
Pyruvate Dehydrogenase Kinase1 (PDK1) belongs to the family of kinases, regulates diverse metabolic processes. PDK1 is a susceptibility locus for heart failure via thinning of ventricle walls, and enlarged atria and ventricles. We successfully developed a PDK1 knockout (PDK1/) human embryonic stem cell (hESC) line using an episomal vector-based CRISPR/Cas9 system explore the role of PDK in human heart development. This PDK1-KO hESC line-maintained stem cell-like morphology, pluripotency, and normal karyotype and can differentiate into all three germ layers in vivo. This cell line will be a valuable tool for future research on the role of PDK1 in heart development.
丙酮酸脱氢酶激酶1 (Pyruvate Dehydrogenase Kinase1, PDK1)属于激酶家族,调控多种代谢过程。PDK1是心衰的易感性位点,可导致心室壁变薄、心房和心室增大。我们利用episomal载体CRISPR/Cas9系统成功开发了PDK1敲除(PDK1-/-)人胚胎干细胞(hESC)系,探索PDK在人类心脏发育中的作用。这种PDK1-KO hESC细胞系维持干细胞样形态、多能性和正常核型,并能在体内分化为所有三种胚层。该细胞系将为未来研究PDK1在心脏发育中的作用提供有价值的工具。
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引用次数: 0
Generation of a human induced pluripotent stem cell line (UNIFEi001-A) from a patient with Spinocerebellar ataxia type 1 (SCA1)
IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-22 DOI: 10.1016/j.scr.2024.103637
Mariangela Pappadà , Sara Melija , Martina Facchini , Mara Martino , Sofia Minarini , Anna Caproni , Chiara Nordi , Paola Rimessi , Rita Selvatici , Peggy Marconi
Spinocerebellar ataxia type 1 (SCA1) is one of six SCAs related to the expansion of a CAG repeat, encoding glutamine. Induced pluripotent stem cells were generated by reprogramming fibroblasts isolated from a patient affected by SCA1, through the transduction of three viral vectors derived from a non-integrative virus. UNIFEi001-A cell line presents an ESC-like morphology, is vector-free, expresses pluripotency markers, presents a normal karyotype and can differentiate into the three germ layers. These cells can be further differentiated into neural stem cells and neurons to serve as a cellular model.
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引用次数: 0
Derivation of induced pluripotent stem cell TUSMi013-A from a 66-year-old Chinese Han Parkinson’s disease patient carrying VPS13C and TBP mutations
IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-18 DOI: 10.1016/j.scr.2024.103631
Can Cui , Jian Chen , Hao Shen , Bei Zhang
Parkinson’s Disease (PD), a prevalent neurodegenerative condition, is distinguished by its motor dysfunction. Induced pluripotent stem cells (iPSCs), derived from PD patients, constitute an exquisite investigative tool for elucidating the pathophysiology of the disease, assessing candidate therapeutics, and probing the potential for regenerative medicine approaches. The present study was designed to establish an iPSC line, designated TUSMi013-A, from the dermal fibroblasts of a 66-year-old female afflicted with PD, harboring mutations in VPS13C and TBP. This iPSC line offers a significant resource for the dissection of PD etiology and the innovation of novel therapeutic strategies.
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引用次数: 0
Corrigendum to “Generation of an induced pluripotent stem cell line IGIBi18-A from an Indian patient with rubinstein taybi syndrome” [Stem Cell Res. 78 (2024) 103456] 对 "从一名印度鲁宾斯坦-泰比综合征患者体内生成诱导多能干细胞系 IGIBi18-A"[《干细胞研究》78 (2024) 103456]的更正。
IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-01 DOI: 10.1016/j.scr.2024.103539
Shweta Verma , Sujit Dalabehera , Ranjeet Maurya , Dayanidhi Singh , Bhavana Prasher , Rajesh Pandey , Sharmila Bapat , Sivaprakash Ramalingam , Chetana Sachidanandan
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引用次数: 0
Corrigendum to “Generation of ID1/3 knockout human embryonic stem cell lines (WAe009-A-2A and WAe009-A-2B) derived from H9 using CRISPR/Cas9” [Stem Cell Research 81 (2024) 103569] “利用CRISPR/Cas9从H9衍生出ID1/3基因敲除的人胚胎干细胞系(WAe009-A-2A和WAe009-A-2B)”的更正[干细胞研究81(2024)103569]。
IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-12-01 DOI: 10.1016/j.scr.2024.103622
Yihui Li, Mingxia Du, Zibing Jin
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引用次数: 0
Generation of induced pluripotent stem cell line (ZZUi037-A) from a patient with spinocerebellar ataxia type 3 从一名脊髓小脑共济失调 3 型患者身上提取诱导多能干细胞系 (ZZUi037-A)
IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-11-22 DOI: 10.1016/j.scr.2024.103617
Yunan Cheng , Huifang Sun , Xiaolei Chen , Xinyu Li , Yuming Xu , Yanlin Wang
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant degenerative disease that causes progressive cerebellar ataxia due to abnormal expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the ATXN3 gene, leading to abnormal accumulation of PolyQ to form neuronal nuclear inclusions. Currently, there is no effective treatment for it. Here, we obtained dermal fibroblasts from a patient and induced pluripotent stem cells (iPSCs) were successfully obtained by non-integrated reprogramming techniques. This cell line maintains typical pluripotent markers and mutation sequences of with normal karyotype. This provides resources for further research on the pathogenesis and treatment of SCA3.
脊髓小脑共济失调 3 型(SCA3)是一种常染色体显性变性疾病,由于 ATXN3 基因中胞嘧啶-腺嘌呤-鸟嘌呤(CAG)三核苷酸重复序列异常扩增,导致 PolyQ 异常聚集形成神经元核内含物,从而引起进行性小脑共济失调。目前,尚无有效的治疗方法。在此,我们从一名患者身上获得了真皮成纤维细胞,并通过非整合重编程技术成功获得了诱导多能干细胞(iPSC)。该细胞系保持了正常核型的典型多能性标记和突变序列。这为进一步研究SCA3的发病机制和治疗提供了资源。
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引用次数: 0
Generation of the TSHSUi002-A induced pluripotent stem cell line from a patient with Peutz-Jeghers syndrome carring STK11 gene mutation 从一名携带 STK11 基因突变的 Peutz-Jeghers 综合征患者身上获得 TSHSUi002-A 诱导多能干细胞系
IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-11-22 DOI: 10.1016/j.scr.2024.103618
Weibo Chen , Hongjuan Wang , Kongxi Zhu , Teng Wang , Weihua Yu , Qiong Wu
We report the derivation of an induced pluripotent stem cell (iPSC) line, designated TSHSUi002-A, from a patient with Peutz-Jeghers syndrome carrying a heterozygous c.909C>G mutation in the STK11 gene. The iPSCs were generated through the reprogramming of peripheral blood mononuclear cells using a non-integrating method involving episomal vectors expressing OCT4, SOX2, KLF4, BCL-XL, and c-MYC. These iPSCs exhibit pluripotency markers, are capable of differentiating into cells of all three germ layers in vitro, and maintain a normal karyotype.
我们报告了从一名携带STK11基因杂合c.909C>G突变的Peutz-Jeghers综合征患者身上获得的诱导多能干细胞(iPSC)系,命名为TSHSUi002-A。这些 iPSCs 是通过使用表达 OCT4、SOX2、KLF4、BCL-XL 和 c-MYC 的外显子载体的非整合方法对外周血单核细胞进行重编程生成的。这些 iPSCs 具有多能性标记,能够在体外分化成所有三个生殖层的细胞,并保持正常的核型。
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引用次数: 0
Establishment of a CPAMD8-GFP reporter human embryonic stem cell line, IBBDe001-B, using CRISPR/Cas9 editing 利用 CRISPR/Cas9 编辑技术建立 CPAMD8-GFP 报告人类胚胎干细胞系 IBBDe001-B
IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-11-22 DOI: 10.1016/j.scr.2024.103615
Shun Zhang , Jiahang Li , Wenmin Pan , Qing Ren , Yao Zhou , Ming Chen , Jia Qu , Shasha Li
The human CPAMD8 gene encodes proteins in the A2M/C3 (alpha-2-macroglobulin/complement 3) family, predominantly expressed in the distal tips of the retinal neuroepithelium that form the iris and ciliary body. Mutations in CPAMD8 have been linked to anterior segment dysplasia and congenital glaucoma. Using CRISPR/Cas9 editing, we inserted a 3*EAAAK-EGFP fluorescent tag into the CPAMD8 gene, enabling real-time observation of its expression and providing insights into its biological functions. The resulting gene-edited cell line retained normal stem cell morphology and karyotype, expressed essential pluripotency markers, and exhibited differentiation potential.
人类 CPAMD8 基因编码 A2M/C3(α-2-巨球蛋白/补体 3)家族中的蛋白质,主要表达于形成虹膜和睫状体的视网膜神经上皮的远端。CPAMD8 基因突变与前节发育不良和先天性青光眼有关。利用 CRISPR/Cas9 编辑技术,我们在 CPAMD8 基因中插入了 3*EAAAK-EGFP 荧光标签,从而能够实时观察其表达情况,并深入了解其生物学功能。由此产生的基因编辑细胞系保留了正常的干细胞形态和核型,表达了基本的多能性标记,并表现出分化潜能。
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引用次数: 0
Generation of a human induced pluripotent stem cell line from a female patient carrying LZTR1 gene mutation 从一名携带 LZTR1 基因突变的女性患者体内生成人类诱导多能干细胞系。
IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-11-19 DOI: 10.1016/j.scr.2024.103616
Jinghua Ruan , Mengqing Wu , Jiakai Xiang , Xianrui Hui , Lijun Yang , Ru Lin , Weize Xu , Qiang Shu
The leucine zipper–like transcriptional regulator 1 (LZTR1) gene has been reported to be associated with many kinds of human diseases, including cardiac disease, Noonan syndrome, and schwannomatosis. In this study, peripheral blood mononuclear cells (PBMCs) derived from patient diagnosed with dilated cardiomyopathy (DCM) was successfully reprogrammed into the human induced pluripotent stem cells (iPSCs) line, harboring a distinct heterozygous mutation in the LZTR1 gene. The established patient-derived iPSCs expressed endogenous pluripotent markers, demonstrated the potential to differentiate into three germ layers (endoderm, mesoderm, and ectoderm), and exhibited a normal karyotype.
据报道,亮氨酸拉链样转录调节因子 1(LZTR1)基因与多种人类疾病有关,包括心脏病、努南综合征和裂隙性神经瘤病。本研究成功地将来自扩张型心肌病(DCM)患者的外周血单核细胞(PBMCs)重编程为人类诱导多能干细胞(iPSCs)系,其中LZTR1基因存在明显的杂合突变。已建立的患者衍生 iPSCs 表达了内源性多能性标记,显示出分化为三个胚层(内胚层、中胚层和外胚层)的潜力,并表现出正常的核型。
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引用次数: 0
An inducible iFUCCI reporter cell line for tracking cell cycle dynamics in human pluripotent stem cells and their differentiated progeny 用于跟踪人类多能干细胞及其分化后代细胞周期动态的诱导型 iFUCCI 报告细胞系。
IF 0.8 4区 医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Pub Date : 2024-11-17 DOI: 10.1016/j.scr.2024.103614
Merve Ay , Desi Veleva , Mohammad Chowdhury , Sonja Drljaca , Thais Sobanski , Andrew B.J. Prowse , Dmitry A. Ovchinnikov
An ability to monitor cell cycle progression in real time has numerous applications in pluripotent stem cell-based models and therapeutics development. Fluorescence Ubiquitination-based Cell Cycle Indicator (FUCCI) systems enable live monitoring of the cell cycle in stem cells and their differentiated progenies in a non-invasive manner. We describe the generation and characterisation of a cell line with a doxycycline-inducible reporter system, iFUCCI, in the human embryonic stem cell (hESC) line MEL-1. MEL-1 iFUCCI hESCs exhibited a normal karyotype, expressed markers of the undifferentiated state, and demonstrated expected differentiation potential by giving rise to cell populations from all three germ layers.
实时监测细胞周期进展的能力在以多能干细胞为基础的模型和疗法开发中有着广泛的应用。基于荧光泛素化的细胞周期指示剂(FUCCI)系统能以非侵入方式实时监测干细胞及其分化后代的细胞周期。我们描述了在人类胚胎干细胞(hESC)系 MEL-1 中生成的具有强力霉素诱导报告系统 iFUCCI 的细胞系及其特征。MEL-1 iFUCCI hESC表现出正常的核型,表达未分化状态的标记物,并通过产生来自所有三个胚层的细胞群表现出预期的分化潜力。
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Stem cell research
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