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Generation of human induced pluripotent stem cell (DMSCi001-A) line from hematopoietic stem cells of a healthy female donor 从一名健康女性捐献者的造血干细胞中生成人类诱导多能干细胞（DMSCi001-A）系
IF 0.8 4区 医学
Stem cell research Pub Date : 2024-10-28 DOI: 10.1016/j.scr.2024.103605
{"title":"Generation of human induced pluripotent stem cell (DMSCi001-A) line from hematopoietic stem cells of a healthy female donor","authors":"","doi":"10.1016/j.scr.2024.103605","DOIUrl":"10.1016/j.scr.2024.103605","url":null,"abstract":"<div><div>Hematopoietic stem cell isolated from a healthy 39-year-old woman were successfully reprogrammed and transformed into induced pluripotent stem cell (iPSCs) by using the integration-free episomal vector included OCT3/4/shp53, Sox2/KLF4, L-MYC/LIN28 and EBNA-1 reprogramming factors. The transformed iPSC lines were cultured and expanded under feeder-free condition. They demonstrated the normal karyotype, expressed pluripotency markers and differentiated into cells derived from the three germ layers. These iPSCs are capable of differentiating into numerous cell subtypes for the purposes of drug discovery and mechanism investigation.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142587199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of four human induced pluripotent stem cell lines derived from patients with MPAN, subtype of NBIA, carrying the c.204_214del11 mutation in the C19orf12 gene 从携带 C19orf12 基因 c.204_214del11 突变的 NBIA 亚型 MPAN 患者身上获得的四种人类诱导多能干细胞系。
IF 0.8 4区 医学
Stem cell research Pub Date : 2024-10-28 DOI: 10.1016/j.scr.2024.103603
{"title":"Generation of four human induced pluripotent stem cell lines derived from patients with MPAN, subtype of NBIA, carrying the c.204_214del11 mutation in the C19orf12 gene","authors":"","doi":"10.1016/j.scr.2024.103603","DOIUrl":"10.1016/j.scr.2024.103603","url":null,"abstract":"<div><div>Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurodegenerative diseases characterized by iron accumulation in the brain. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a subtype of NBIA caused by an autosomal recessive mutation in the <em>C19orf12</em> gene. In this work, we generated and characterized four lines of human induced pluripotent stem cell (hiPSCs) derived from dermal fibroblasts of patients carrying homozygous mutation c.204_214del11, p.(Gly69Argfs*10) in the <em>C19orf12</em> gene. The mechanism of the disease is still far from clear, therefore the hiPSC cell lines will be a suitable model for studying NBIA-MPAN neurodegeneration.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of SFTPC-mCherry knock-in reporter human embryonic stem cell line, WAe001-A-2H, using CRISPR/Cas9-based gene targeting 利用基于 CRISPR/Cas9 的基因打靶技术生成 SFTPC-mCherry 基因敲入报告人胚胎干细胞 WAe001-A-2H。
IF 0.8 4区 医学
Stem cell research Pub Date : 2024-10-28 DOI: 10.1016/j.scr.2024.103597
{"title":"Generation of SFTPC-mCherry knock-in reporter human embryonic stem cell line, WAe001-A-2H, using CRISPR/Cas9-based gene targeting","authors":"","doi":"10.1016/j.scr.2024.103597","DOIUrl":"10.1016/j.scr.2024.103597","url":null,"abstract":"<div><div>The SFTPC gene is responsible for the production of the pulmonary surfactant protein C (SPC), a highly hydrophobic molecule that plays a crucial role in maintaining lung integrity through its influence on the synthesis of alveolar surfactant proteins. In this study, we harnessed the CRISPR/Cas9 system for precise genome editing to create a modified H1 human embryonic stem cell (hESC) line, incorporating the SFTPC-mCherry reporter construct. Therefore, the engineered SFTPC-mCherry knock-in (KI) hESC line can serve as an effective tool for tracking the expression patterns of the SFTPC gene as alveolar type 2 cells differentiate from hESCs.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142547542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene 从一名携带 BUB1 基因复合杂合子突变的小头畸形年轻女性身上获得的两个同源诱导多能干细胞系的生成和特征描述
IF 0.8 4区 医学
Stem cell research Pub Date : 2024-10-23 DOI: 10.1016/j.scr.2024.103594
{"title":"Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene","authors":"","doi":"10.1016/j.scr.2024.103594","DOIUrl":"10.1016/j.scr.2024.103594","url":null,"abstract":"<div><div>Mutations in the Budding uninhibited by benzimidazoles (<em>BUB1</em>) gene were recently associated with neurodevelopmental disorders (Carvalhal et al., 2022). Here, we describe the generation and characterization of two induced pluripotent stem cells (iPSC) clones from a young female with microcephaly. The patient carried two variants in the <em>BUB</em>fibroblast gene (OMIM # 602452), one (c.[2197dupG]; p.[D732fs*11]) paternally inherited and one (c.[2625+1G&gt;A]; p.[V822_L875del] maternally inherited. The generated clones exhibit a normal karyotype (UALGi003-A) and trisomy 8 (UALGi003-B), express pluripotency markers, and differentiate into trilineage cells in vitro. These cell lines can be used to study neurodevelopment and the processes of chromosome segregation.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142532701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene 从携带 MTMR5/Sbf1 基因突变的 Charcot-Marie-Tooth 病 4B3 型患者中建立三个人类多能干细胞系并确定其特征。
IF 0.8 4区 医学
Stem cell research Pub Date : 2024-10-22 DOI: 10.1016/j.scr.2024.103599
{"title":"Establishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene","authors":"","doi":"10.1016/j.scr.2024.103599","DOIUrl":"10.1016/j.scr.2024.103599","url":null,"abstract":"<div><div>Myotubularin-Related Protein 5 (MTMR5) is an inactive, poorly characterized D3-phosphatidylinositol phosphatase. Mutations in MTMR5 have been linked to Charcot-Marie-Tooth Disease Type 4B3 (CMT4B3), a rare, early-onset, recessive peripheral neuropathy. Here, we describe the establishment and validation of three human induced pluripotent stem cell (iPSC) lines derived from unrelated CMT4B3 patients, each harboring homozygous MTMR5/<em>Sbf1</em> mutations. Current MTMR5 <sup>-/-</sup> animal models do not clearly link <em>Sbf1</em> mutations to severe neuropathy, so such a resource is highly desired to further elucidate the relationship between MTMR5 dysfunction and peripheral nerve degeneration.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of a homozygous TIGIT gene knockout (TIGIT−/−) human iPSC line (MUSIi001-A-3) using CRISPR/Cas9 system 利用 CRISPR/Cas9 系统生成同基因 TIGIT 基因敲除（TIGIT-/-）人 iPSC 株系（MUSIi001-A-3）。
IF 0.8 4区 医学
Stem cell research Pub Date : 2024-10-22 DOI: 10.1016/j.scr.2024.103601
{"title":"Generation of a homozygous TIGIT gene knockout (TIGIT−/−) human iPSC line (MUSIi001-A-3) using CRISPR/Cas9 system","authors":"","doi":"10.1016/j.scr.2024.103601","DOIUrl":"10.1016/j.scr.2024.103601","url":null,"abstract":"<div><div>Adoptive cell therapy for solid cancers involves enhancing and reinfusing immune cells to target tumor cells. The advancement of induced pluripotent stem cell technology enables the generation of immune cell products like T and NK cells for ACT. However, the expression of inhibitory receptors, such as TIGIT, may limit the functionality of these immune effector cells. In this study, we generated a homozygous<!--> <em>TIGIT</em> <!-->gene knockout iPSC line to potentially prevent inhibitory signaling and exhaustion, thereby creating potent “off-the-shelf” immune cell products for cellular immunotherapy applications. This approach could offer a new frontier in the fight against solid tumors.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142537104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD) 从游离硫辛酸贮存障碍（FSASD）患者身上获得的两个 iPSC 株系的生成和特征描述。
IF 0.8 4区 医学
Stem cell research Pub Date : 2024-10-22 DOI: 10.1016/j.scr.2024.103600
{"title":"Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)","authors":"","doi":"10.1016/j.scr.2024.103600","DOIUrl":"10.1016/j.scr.2024.103600","url":null,"abstract":"<div><div>Free sialic acid storage disorder (FSASD) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic mutations in <em>SLC17A5</em>, encoding the lysosomal transmembrane sialic acid exporter, SLC17A5. Defects in SLC17A5 lead to lysosomal accumulation of free sialic acid and other acid hexoses. The clinical spectrum of FSASD ranges from mild (Salla disease) to severe infantile forms. The pathobiology underlying FSASD remains elusive. In this study, two induced pluripotent stem cell (iPSC) lines were generated from a mild and an intermediate FSASD patient and characterized to provide much-needed additional models for basic and translational studies.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene 从一名因 MPV17 基因同源 c.122G > A p.(Arg41Gln) 突变而患 Charcot-Marie-Tooth 病 2EE 型 (CMT2EE) 的患者身上建立人类诱导多能干细胞 (iPSC) 株 (JUCTCi018-A)。
IF 0.8 4区 医学
Stem cell research Pub Date : 2024-10-22 DOI: 10.1016/j.scr.2024.103602
{"title":"Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene","authors":"","doi":"10.1016/j.scr.2024.103602","DOIUrl":"10.1016/j.scr.2024.103602","url":null,"abstract":"<div><div><em>(</em>Charcot-Marie-Tooth disease (CMT) is a genetic disorder affecting peripheral nerves. The human induced pluripotent stem cell (iPSC) line JUCTCi018-A was created using dermal fibroblasts from a Charcot-Marie-Tooth disease type 2EE (CMT2EE) patient with a homozygous missense mutation in the MPV17 gene (c. 122G &gt; A, p.Arg41Gln). These fibroblasts were reprogrammed using Sendai viruses that encoded OCT4, SOX2, KLF4, and c-MYC reprogramming factors. The iPSCs demonstrated normal morphology and karyotype, expressed pluripotency markers, and the ability to differentiate into the three germ layers. This iPSC line is valuable for investigating the mechanisms underlying CMT2EE.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142508342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of heterozygous KCNA2 knockout induced pluripotent stem cell line 杂合子 KCNA2 基因敲除诱导多能干细胞系的产生
IF 0.8 4区 医学
Stem cell research Pub Date : 2024-10-21 DOI: 10.1016/j.scr.2024.103596
{"title":"Generation of heterozygous KCNA2 knockout induced pluripotent stem cell line","authors":"","doi":"10.1016/j.scr.2024.103596","DOIUrl":"10.1016/j.scr.2024.103596","url":null,"abstract":"<div><div>The <em>KCNA2</em> gene is the voltage-gated ion channel from both functional and structural perspectives. <em>KCNA2</em> is involved in diverse functions including the regulation of neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. To investigate the relevant pathophysiological mechanisms, we generated heterozygous <em>KCNA2</em> knockout human induced pluripotent stem cell (iPSC) line via CRISPR/Cas9 gene editing. The generated iPSCs had a normal karyotype, were free of genetically integrated epitaxial plasmids, expressed pluripotency markers, and maintained trilineage differentiation potential.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142532699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patient 从一名 DYT-TOR1A 患者身上生成四种人源 iPSC TorsinA-3xFLAG 报告系
IF 0.8 4区 医学
Stem cell research Pub Date : 2024-10-21 DOI: 10.1016/j.scr.2024.103595
{"title":"Generation of four human-derived iPSC TorsinA-3xFLAG reporter lines from a DYT-TOR1A patient","authors":"","doi":"10.1016/j.scr.2024.103595","DOIUrl":"10.1016/j.scr.2024.103595","url":null,"abstract":"<div><div>A 3-bp deletion (ΔGAG) in <em>TOR1A</em> is a common cause of early-onset isolated dystonia DYT-TOR1A. The exact disease mechanism remains unknown. Here we describe the generation and characterization of four TorsinA-3xFLAG reporter induced pluripotent cell (iPSC) lines derived from a DYT-TOR1A patient. The cell lines carry either a ΔGAG variant or a corrected allele and a mono- or biallelic 3xFLAG-Tag introduced using CRISPR/Cas9 technology. These cells provide an opportunity to study differential protein stability, subcellular localization, and interactors of endogenous WT or ΔE variants of TorsinA in iPSCs, neural progenitor cells (smNPC), and neurons.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142532700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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