Stem cell research最新文献

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Generation of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9 通过CRISPR/Cas9技术产生层析成分A/C基因敲除的人类诱导多能干细胞系（ZJULLi007-A）。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research

Pub Date : 2024-10-15 DOI: 10.1016/j.scr.2024.103579

Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. In this study, a lamin A/C knockout human induced pluripotent stem cell line was successfully generated using the CRISPR/Cas9 genome-editing technology, which was confirmed with normal pluripotency and karyotype.

Lamin A/C 是一种由 LMNA 基因编码的蛋白质，属于核薄层蛋白家族。LMNA 基因突变会导致多种疾病：埃默里-德赖福斯肌肉营养不良症、家族性部分脂肪营养不良症、肢腰肌营养不良症、扩张型心肌病、夏科-玛丽-牙病和哈钦森-吉尔福德早衰综合征。本研究利用CRISPR/Cas9基因组编辑技术，成功培育出了lamin A/C基因敲除的人类诱导多能干细胞系，并证实该细胞系具有正常的多能性和核型。

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Establishment of a CIB1 knockout human pluripotent stem cell line via CRISPR/Cas9 genome editing technology 通过 CRISPR/Cas9 基因组编辑技术建立 CIB1 基因敲除的人类多能干细胞系

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research

Pub Date : 2024-10-15 DOI: 10.1016/j.scr.2024.103580

Calcium- and integrin-binding protein 1 (CIB1) has a diverse role in many different cell types and processes, including calcium signaling, migration, adhesion, proliferation, and survival. It is associated with cancer, cardiovascular disease and male infertility. Here, CRISPR/Cas9 genome-editing technology was employed to establish a CIB1 knockout human embryonic stem cell line, which exhibited normal pluripotency and karyotype.

钙和整合素结合蛋白 1（CIB1）在许多不同类型的细胞和过程中发挥着不同的作用，包括钙信号转导、迁移、粘附、增殖和存活。它与癌症、心血管疾病和男性不育症有关。本文采用CRISPR/Cas9基因组编辑技术建立了CIB1基因敲除的人类胚胎干细胞系，该细胞系表现出正常的多能性和核型。

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Establishment of an induced pluripotent cell line (ABCRIi001-A) from an elderly female for ageing research 从一名老年女性身上建立诱导多能细胞系（ABCRIi001-A），用于老龄化研究。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research

Pub Date : 2024-10-15 DOI: 10.1016/j.scr.2024.103576

Human induced pluripotent stem cells (hiPSCs) hold promises to model and understand human diseases, including those associated with ageing. Here, we describe ABCRIi001-A, a hiPSC line generated from peripheral blood mononuclear cells (PBMCs) of a 79-year-old female enrolled in a study for development of an ageing score (ALFA Score). PBMCs were reprogrammed using three Sendai virus-based reprogramming vectors (hKOS, hc-Myc, and hKlf4). ABCRIi001-A showed normal morphology and karyotype, viral clearance, absence of genomic aberrations, and their pluripotency was confirmed by expression of pluripotency-related markers and their ability to differentiate into the three germ layers. ABCRIi001-A is valuable for ageing-related studies.

人类诱导多能干细胞（hiPSC）有望模拟和了解人类疾病，包括与衰老相关的疾病。在这里，我们描述了ABCRIi001-A，这是一种从一名79岁女性的外周血单核细胞（PBMC）中产生的hiPSC细胞系，该女性参加了一项老龄化评分（ALFA评分）的研究。使用三种基于仙台病毒的重编程载体（hKOS、hc-Myc 和 hKlf4）对 PBMC 进行了重编程。ABCRIi001-A显示出正常的形态和核型、病毒清除、无基因组畸变，其多能相关标记物的表达和向三个生殖层分化的能力证实了它们的多能性。ABCRIi001-A对老龄化相关研究具有重要价值。

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CRISPR/Cas9-mediated generation of a human induced pluripotent stem cell line with PRPF6 c.2699 G > A mutation to model retinitis pigmentosa 通过 CRISPR/Cas9 介导，产生具有 PRPF6 c.2699 G > A 突变的人类诱导多能干细胞系，以建立视网膜色素变性模型

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research

Pub Date : 2024-10-14 DOI: 10.1016/j.scr.2024.103581

PRPF6, located on chromosome 20, is required for the formation of the spliceosome. Mutations in the PRPF6 gene can lead to retinitis pigmentosa (RP), a common inherited retinal disease characterized by progressive degeneration of retinal pigment epithelium and photoreceptors. Here, we generated an induced pluripotent stem cell (iPSC) line carrying the PRPF6 c.2699 G > A mutation using CRISPR/Cas9 technology, which will provide a valuable resource for RP pathogenesis and treatment research.

位于 20 号染色体上的 PRPF6 是剪接体形成所必需的。PRPF6基因突变可导致色素性视网膜炎（RP），这是一种常见的遗传性视网膜疾病，其特征是视网膜色素上皮细胞和感光细胞进行性变性。在这里，我们利用 CRISPR/Cas9 技术生成了携带 PRPF6 c.2699 G > A 突变的诱导多能干细胞（iPSC）系，这将为 RP 发病机制和治疗研究提供宝贵的资源。

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Establishment of a transgene-free iPS cell line (SDCHi002-A) from a young patient bearing a NPRL3 mutation and suffering from Epilepsy 建立无转基因 iPS 细胞系（SDCHi002-A），该细胞系来自一名患有癫痫的 NPRL3 基因突变的年轻患者。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research

Pub Date : 2024-10-11 DOI: 10.1016/j.scr.2024.103574

Epilepsy affects ∼ 65 million people worldwide. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 3 Protein (NPRL3) mutation and suffering from Epilepsy verified by clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established by a non-integrative method, using plasmids carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC. The established iPSCs presented typical pluripotent cells morphology, normal karyotype, and potential to differentiate into three germ layers. Our approach offers a useful model to explore pathogenesis and therapy of Epilepsy.

全世界有 6500 万人患有癫痫。在这项研究中，研究人员从一名携带氮核酶调控因子3蛋白（NPRL3）突变的年轻癫痫患者身上分离出外周血单核细胞，并通过临床和基因诊断证实该患者患有癫痫。使用携带 OCT4、SOX2、KLF4、BCL-XL 和 C-MYC 的质粒，通过非整合方法建立了诱导多能干细胞（iPSCs）。建立的 iPSCs 具有典型的多能细胞形态、正常核型和分化为三个生殖层的潜能。我们的方法为探索癫痫的发病机制和治疗提供了一个有用的模型。

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Generation of an induced pluripotent stem cell line (HMSCATi004-A) from an early onset Parkinson’s disease patient with PRKN gene mutation 从一名 PRKN 基因突变的早发性帕金森病患者体内生成诱导多能干细胞系（HMSCATi004-A）

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research

Pub Date : 2024-10-09 DOI: 10.1016/j.scr.2024.103578

Parkin (PRKN) is recognized as causative gene in early-onset Parkinson’s disease (PD). Induced pluripotent stem cells (iPSCs) were derived from a 29-year-old PD patient carrying a heterozygous c.823C > T (p.R275W) variant and an exon 2–4 deletion in PRKN. The Generated iPSCs maintain a normal karyotype, express pluripotency markers, and retain the ability to differentiate into the three germ layers. This iPSC line serves as a valuable cellular model for investigating the pathogenesis of early-onset PD and development of potential therapeutic interventions.

Parkin（PRKN）被认为是早发性帕金森病（PD）的致病基因。诱导多能干细胞（iPSCs）来源于一名 29 岁的帕金森病患者，该患者携带杂合子 c.823C > T（p.R275W）变异和 PRKN 第 2-4 号外显子缺失。生成的 iPSCs 保持正常核型，表达多能性标记，并具有向三个生殖层分化的能力。该 iPSC 细胞系是研究早发性帕金森病发病机制和开发潜在治疗干预措施的重要细胞模型。

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Generation of patient-derived induced pluripotent stem cell line UJSi004-A from ultra-treatment-resistant schizophrenia 从超耐药精神分裂症患者中生成诱导多能干细胞系 UJSi004-A

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research

Pub Date : 2024-10-09 DOI: 10.1016/j.scr.2024.103575

Schizophrenia is a severe mental illness with disabling effects. Induced pluripotent stem cells (iPSCs) are generated by reprogramming peripheral blood mononuclear cells (PBMCs) from patients with ultra-treatment-resistant schizophrenia (UTRS). iPSCs have normal karyotype, express pluripotency markers and differentiate into three germ layers in vivo. This iPSC cell line carries the genetic information of the patient and is a good model for studying disease mechanisms and developing new therapies.

精神分裂症是一种严重的精神疾病，具有致残性。诱导多能干细胞（iPSC）是通过对超耐药精神分裂症（UTRS）患者的外周血单核细胞（PBMC）进行重编程而产生的。这种 iPSC 细胞系携带患者的遗传信息，是研究疾病机理和开发新疗法的良好模型。

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Derivation of induced pluripotent stem cell from a Baraitser-Winter Cerebrofrontofacial syndrome with ACTB mutation 从 ACTB 基因突变的巴莱泽-温特脑前颜面综合症患者中提取诱导多能干细胞。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research

Pub Date : 2024-10-09 DOI: 10.1016/j.scr.2024.103577

Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF, OMIM: 243310) is a rare congenital developmental disorder marked by distinct facial dysmorphisms, coloboma, diminutive stature, and cognitive impairment, as initially described by Baraitser and Winter in 1988. Here, we derived human induced pluripotent stem cells (hiPSCs) from a 4-year-old male patient diagnosed with Baraitser-Winter Cerebrofrontofacial syndrome and harbouring a mutation in the ACTB gene. The newly established hiPSC line exhibited normal karyotypes and demonstrated the capacity to differentiate into all three germ layers. Additionally, these hiPSCs maintained their original genotype and expressed markers of pluripotency. Patient-derived hiPSCs would serve as a valuable tool for in vitro modelling of Baraitser-Winter Cerebrofrontofacial syndrome and reveal the potential pathogenesis induced by ACTB gene mutations.

巴莱泽-温特脑前颜面综合征（BWCFF，OMIM: 243310）是一种罕见的先天性发育障碍疾病，以明显的面部畸形、黑眼圈、身材矮小和认知障碍为特征，最初由巴莱泽和温特于1988年描述。在这里，我们从一名被诊断患有巴莱泽-温特脑前面部综合征并携带 ACTB 基因突变的 4 岁男性患者身上获得了人类诱导多能干细胞（hiPSCs）。新建立的 hiPSC 株系显示出正常的核型，并具有向所有三个生殖层分化的能力。此外，这些 hiPSCs 还保持了原始基因型，并表达了多能性标记。患者来源的 hiPSCs 将成为巴雷泽-温特脑面神经综合征体外建模的重要工具，并揭示 ACTB 基因突变诱导的潜在发病机制。

引用次数: 0

Generation of a gene-corrected isogenic human iPSC line (CSUASOi006-A-1) from a retinitis pigmentosa patient with heterozygous c.5792C > T mutation in the PRPF8 gene 从一名 PRPF8 基因 c.5792C > T 杂合子突变的视网膜色素变性患者身上获得基因校正的同源人类 iPSC 系（CSUASOi006-A-1）。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research

Pub Date : 2024-10-05 DOI: 10.1016/j.scr.2024.103572

Retinitis pigmentosa (RP) is a common inherited retinal disease characterized by progressive degeneration of the retina, leading to night blindness, progressive vision loss, and constriction of the visual field. Previously, we established a human induced pluripotent stem cell line (CSUASOi006-A) from a RP patient carrying heterozygous PRPF8 (c.C5792T) mutation. Here, we corrected the mutation sites in PRPF8 (c.C5792T) using an adenine base editor and then generated an isogenic control (CSUASOi006-A-1), which is a valuable cell resource for research of RP.

视网膜色素变性（RP）是一种常见的遗传性视网膜疾病，其特点是视网膜进行性变性，导致夜盲症、进行性视力丧失和视野缩小。此前，我们从一名携带杂合子PRPF8（c.C5792T）突变的RP患者身上建立了人类诱导多能干细胞系（CSUASOi006-A）。在这里，我们利用腺嘌呤碱基编辑器校正了PRPF8（c.C5792T）的突变位点，然后生成了一个同源对照（CSUASOi006-A-1），它是研究RP的宝贵细胞资源。

引用次数: 0

Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant 从一名携带新型 SCN1A 变异基因的女性癫痫患儿的 PBMCs 中生成诱导多能干细胞系 NIMHi013-A。

IF 0.8 4区医学 Q4 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Stem cell research

Pub Date : 2024-10-05 DOI: 10.1016/j.scr.2024.103573

The iPSC line NIMHi013-A was generated from peripheral blood mononuclear cells of a paediatric patient with drug resistant epilepsy. The proband was found to have a likely pathogenic missense variant in the SCN1A gene in heterozygous state, which segregated in the affected in dominant fashion. The variant is in the Nav1.1 subunit of the voltage gated sodium ion channel. The iPSCs were generated using Sendai virus-based reprogramming. These iPSCs express pluripotent markers, present a normal karyotype and could differentiate into three germ layers. The iPSC line NIMHi013-A can be used to investigate epileptogenesis in vitro.

iPSC 株系 NIMHi013-A 是由一名耐药性癫痫儿科患者的外周血单核细胞产生的。研究发现，该患者的 SCN1A 基因中存在一个可能致病的错义变体，该变体为杂合型，在患者体内以显性方式遗传。该变异位于电压门控钠离子通道的 Nav1.1 亚基中。iPSCs 是通过仙台病毒重编程产生的。这些 iPSCs 表达多能性标记，呈现正常核型，并能分化成三个胚层。iPSC品系NIMHi013-A可用于体外研究癫痫的发生。

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