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Establishment of human induced pluripotent stem cell line BAFYi001-A from a patient with Edwards syndrome 爱德华兹综合征患者诱导多能干细胞BAFYi001-A的建立
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-05-13 DOI: 10.1016/j.scr.2025.103735
Qingqing Yang , Simin Liu , Jing Ruan, Bo Sun, Xiaoyan Chen, Xingqiang Lai
{"title":"Establishment of human induced pluripotent stem cell line BAFYi001-A from a patient with Edwards syndrome","authors":"Qingqing Yang ,&nbsp;Simin Liu ,&nbsp;Jing Ruan,&nbsp;Bo Sun,&nbsp;Xiaoyan Chen,&nbsp;Xingqiang Lai","doi":"10.1016/j.scr.2025.103735","DOIUrl":"10.1016/j.scr.2025.103735","url":null,"abstract":"<div><div>Edwards’ syndrome (trisomy 18) is a genetic disorder characterized by the presence of an extra chromosome 18. A specific induced pluripotent stem cell (iPSC) line, named BAFYi001-A, was generated from the umbilical cord-derived mesenchymal stromal cells (UC-MSCs) of a patient with Edwards syndrome using an integration-free Sendai virus method. This line expresses markers for identifying undifferentiated hiPSCs, trilineage differentiation potential, and genetic fidelity in the context of trisomy 18. Therefore, this cell line serves as a reliable in vitro model for investigating the pathogenesis of Edward syndrome.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103735"},"PeriodicalIF":0.8,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143947558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characterization of an induced pluripotent stem cell line NCHi025-A from a 1-year-old female with pulmonary stenosis harboring a heterozygous HAND2 variant 1岁肺狭窄女性携带杂合型HAND2变异的诱导多能干细胞系NCHi025-A的鉴定
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-05-10 DOI: 10.1016/j.scr.2025.103733
Aaron Argall , Shiqiao Ye , Amanda Moccia , Brandon Stone , Jesse Hunter , Vidu Garg , Ming-Tao Zhao
{"title":"Characterization of an induced pluripotent stem cell line NCHi025-A from a 1-year-old female with pulmonary stenosis harboring a heterozygous HAND2 variant","authors":"Aaron Argall ,&nbsp;Shiqiao Ye ,&nbsp;Amanda Moccia ,&nbsp;Brandon Stone ,&nbsp;Jesse Hunter ,&nbsp;Vidu Garg ,&nbsp;Ming-Tao Zhao","doi":"10.1016/j.scr.2025.103733","DOIUrl":"10.1016/j.scr.2025.103733","url":null,"abstract":"<div><div>HAND2 is a transcription factor that plays a vital role in the development of the heart, limbs, and pharyngeal arch. Functional defects in HAND2 have been shown to cause congenital malformations in the extremities of the body and the heart. NCHi025-A iPSC line was generated from a 1-year-old female with pulmonary stenosis and harbors a novel de novo heterozygous variant of uncertain significance within <em>HAND2</em> (NM_021973.3; c.247delG; p.Val83CysfsTer16). This variant causes a frameshift and premature stop codon that is predicted to truncate the protein. NCHi025-A is a pluripotent stem cell line that can be leveraged to investigate <em>HAND2</em>-associated phenotypic development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103733"},"PeriodicalIF":0.8,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144069995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes 四种具有RPGRIP1L或CPLANE1基因突变的Joubert综合征患者来源的诱导多能干细胞（iPSC）系的产生和特性
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-05-10 DOI: 10.1016/j.scr.2025.103734
L. Pollara , E. de Gregorio , V. Buonofiglio , L. Bianca , T. Stellato , M. Brusa , E. De Gasperi , A. Ardissone , G. Zanni , R. Battini , S. Briuglia , V. Sottile , E.M. Valente
{"title":"Production and characterisation of four Joubert syndrome patient-derived induced pluripotent stem cell (iPSC) lines with mutations in either RPGRIP1L or CPLANE1 genes","authors":"L. Pollara ,&nbsp;E. de Gregorio ,&nbsp;V. Buonofiglio ,&nbsp;L. Bianca ,&nbsp;T. Stellato ,&nbsp;M. Brusa ,&nbsp;E. De Gasperi ,&nbsp;A. Ardissone ,&nbsp;G. Zanni ,&nbsp;R. Battini ,&nbsp;S. Briuglia ,&nbsp;V. Sottile ,&nbsp;E.M. Valente","doi":"10.1016/j.scr.2025.103734","DOIUrl":"10.1016/j.scr.2025.103734","url":null,"abstract":"<div><div>Four iPSC lines were generated from patients with Joubert syndrome, two carrying compound heterozygous variants in the <em>RPGRIP1L</em> gene (c.2050C &gt; T/c.2304 + 1G &gt; T for one line, c.751C &gt; T/c.1679C &gt; T for the other) and two harbouring homozygous variants in the <em>CPLANE1</em> gene (c.8137_8138insT for one line, c.4634G &gt; A for the other). Dermal fibroblasts from patients were reprogrammed using the Sendai virus method and the resulting iPSC lines, confirmed to show the same STR profile as parental fibroblasts, displayed a normal karyotype, the expression of undifferentiated PSC markers (OCT4, SOX2, SSEA4 and NANOG) and the ability to differentiate into derivatives of the three germ layers <em>in vitro</em>.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103734"},"PeriodicalIF":0.8,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144084358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reprogramming of two induced pluripotent stem cell clones from a patient with a novel MT-ATP6/8 mutation (m.8570 T > C) 一种新型MT-ATP6/8突变（m.8570）患者的两个诱导多能干细胞克隆的重编程选c。
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-05-08 DOI: 10.1016/j.scr.2025.103732
Anna Maria Haschke , Sebastian Diecke , Harald Stachelscheid , Markus Schuelke
{"title":"Reprogramming of two induced pluripotent stem cell clones from a patient with a novel MT-ATP6/8 mutation (m.8570 T > C)","authors":"Anna Maria Haschke ,&nbsp;Sebastian Diecke ,&nbsp;Harald Stachelscheid ,&nbsp;Markus Schuelke","doi":"10.1016/j.scr.2025.103732","DOIUrl":"10.1016/j.scr.2025.103732","url":null,"abstract":"<div><div>iPSC-based models are valuable for studying the mechanisms and potential treatments of mitochondrial disorders. We generated two iPSC lines from fibroblasts of a patient with a novel <em>MT-ATP6/8</em> mutation (m.8570 T &gt; C). The infant was diagnosed with a mitochondrial disease featuring cardiac hypertrophy, brain atrophy, developmental delay, and metabolic crises with elevated lactate. Mutation heteroplasmy in blood leukocytes was 95 %. Leigh syndrome-like cranial MRI abnormalities were absent at 4 months of age. We introduced reprogramming factors by Sendai virus and assessed the pluripotency of the resulting iPSCs. As control iPSC-line, we characterized the <em>CRMi004-A</em> line from the RUCDR repository.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103732"},"PeriodicalIF":0.8,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143942526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Two iPSC lines with a heterozygous frameshift mutation in the floating-harbour syndrome locus of the SRCAP gene 两个在SRCAP基因浮港综合征位点发生杂合移码突变的iPSC系
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-05-07 DOI: 10.1016/j.scr.2025.103730
J. Rhode , S. Edwards , A. Tzvetkova , L.R. Jensen , M.F. Hossain , B. Nowack , L. Hagenau , A.W. Kuss
{"title":"Two iPSC lines with a heterozygous frameshift mutation in the floating-harbour syndrome locus of the SRCAP gene","authors":"J. Rhode ,&nbsp;S. Edwards ,&nbsp;A. Tzvetkova ,&nbsp;L.R. Jensen ,&nbsp;M.F. Hossain ,&nbsp;B. Nowack ,&nbsp;L. Hagenau ,&nbsp;A.W. Kuss","doi":"10.1016/j.scr.2025.103730","DOIUrl":"10.1016/j.scr.2025.103730","url":null,"abstract":"<div><div>We present two CRISPR/Cas9-modified human iPSC lines with a heterozygous frameshift mutation (NM_006662.3:c.7300_7301insA) in the FLHS-locus of the <em>SRCAP</em> gene, which is associated with Floating-Harbor syndrome, a congenital neurodevelopmental disorder with symptoms including short stature and intellectual disability. The iPSCs express the pluripotency markers OCT4, SOX2, NANOG and TRA 1-60. They show differentiation into cells from all 3 germ layers, no chromosomal abnormalities and no off-target mutations in the tested regions. The mutation leads to a stop codon previously found in patients. Thus, either cell line can serve as disease-specific model for studying <em>SRCAP</em> in the context of FLHS.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103730"},"PeriodicalIF":0.8,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143942527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of an anti-CD5 CAR knock-in human induced pluripotent stem cell line using CRISPR/Cas9 technology 使用CRISPR/Cas9技术生成抗cd5 CAR敲入的人诱导多能干细胞系
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-05-06 DOI: 10.1016/j.scr.2025.103731
Shuoting Wang , Xinrui Guo , Han Yan , Tiancheng Zhou , Jiajun Liu
{"title":"Generation of an anti-CD5 CAR knock-in human induced pluripotent stem cell line using CRISPR/Cas9 technology","authors":"Shuoting Wang ,&nbsp;Xinrui Guo ,&nbsp;Han Yan ,&nbsp;Tiancheng Zhou ,&nbsp;Jiajun Liu","doi":"10.1016/j.scr.2025.103731","DOIUrl":"10.1016/j.scr.2025.103731","url":null,"abstract":"<div><div>The<!--> <!-->anti-CD5 chimeric antigen receptor (CAR)<!--> <!-->is<!--> <!-->a genetically engineered immune cell therapy<!--> <!-->developed<!--> <!-->to target<!--> <!-->CD5-associated<!--> <!-->hematologic malignancies,<!--> <!-->such as<!--> <!-->T-cell lymphoma and leukemia.<!--> <!-->Using<!--> <!-->CRISPR/Cas9-mediated gene targeting, we<!--> <!-->generated<!--> <!-->an<!--> <!-->anti-CD5 CAR knock-in human induced pluripotent stem cell (iPSC) line<!--> <!-->that stably expresses the CAR construct<!--> <!-->and is detectable via FLAG tag and GFP markers. This<!--> <!-->engineered<!--> <!-->cell line<!--> <!-->maintains<!--> <!-->stem cell morphology,<!--> <!-->displays<!--> <!-->a normal karyotype, and<!--> <!-->exhibits robust<!--> <!-->expression of<!--> <!-->pluripotency markers while retaining differentiation potential.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103731"},"PeriodicalIF":0.8,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143927550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of a human embryonic stem cell line (WAe009-A-3B) carrying homozygous TNNT2 gene knockout by CRISPR/Cas9 editing 通过CRISPR/Cas9编辑产生携带纯合子TNNT2基因敲除的人胚胎干细胞系(WAe009-A-3B
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-05-03 DOI: 10.1016/j.scr.2025.103729
Didaer Talanaite , Hongyue Wang , Man Qi , Feng Lan
{"title":"Generation of a human embryonic stem cell line (WAe009-A-3B) carrying homozygous TNNT2 gene knockout by CRISPR/Cas9 editing","authors":"Didaer Talanaite ,&nbsp;Hongyue Wang ,&nbsp;Man Qi ,&nbsp;Feng Lan","doi":"10.1016/j.scr.2025.103729","DOIUrl":"10.1016/j.scr.2025.103729","url":null,"abstract":"<div><div>The <em>TNNT2</em> gene encodes cardiac troponin T (cTnT), a critical protein in cardiac muscle contraction. Mutations in <em>TNNT2</em> are associated with various cardiomyopathies, including hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), which contribute to significant morbidity and mortality. In this study, we established a novel <em>TNNT2</em> knockout human embryonic stem cell (hESC) line, WAe009-A-3B, utilizing the CRISPR/Cas9 genome editing system. This novel hESC line provides an important tool for investigating the molecular mechanisms underlying <em>TNNT2</em>-related cardiomyopathies and may serve as a promising in vitro model for the development of therapeutic strategies targeting <em>TNNT2</em> mutations in cardiac diseases.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103729"},"PeriodicalIF":0.8,"publicationDate":"2025-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143922443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of human induced pluripotent stem cell lines from two down syndrome patients, including a down syndrome/Alzheimer’s disease case (FLENIi002-A) and a beta-amyloid-resistant case (FLENIi003-A) 从两名唐氏综合征患者（包括一名唐氏综合征/阿尔茨海默病病例（FLENIi002-A）和一名β -淀粉样蛋白耐药病例（FLENIi003-A））中生成人类诱导多能干细胞系
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-05-01 DOI: 10.1016/j.scr.2025.103728
Giulia S. Clas , Mariela Marazita , Lucía Pertierra , Silvia Vazquez , Luciana Isaja , Soledad Rodríguez-Varela , Sofía Mucci , Belén Helou , Fernanda Tapajóz , Nahuel Magrath , Yanina Bérgamo , Ricardo Allegri , Gustavo E. Sevlever , Maria E. Scassa , Ezequiel I. Surace , Leonardo Romorini
{"title":"Generation of human induced pluripotent stem cell lines from two down syndrome patients, including a down syndrome/Alzheimer’s disease case (FLENIi002-A) and a beta-amyloid-resistant case (FLENIi003-A)","authors":"Giulia S. Clas ,&nbsp;Mariela Marazita ,&nbsp;Lucía Pertierra ,&nbsp;Silvia Vazquez ,&nbsp;Luciana Isaja ,&nbsp;Soledad Rodríguez-Varela ,&nbsp;Sofía Mucci ,&nbsp;Belén Helou ,&nbsp;Fernanda Tapajóz ,&nbsp;Nahuel Magrath ,&nbsp;Yanina Bérgamo ,&nbsp;Ricardo Allegri ,&nbsp;Gustavo E. Sevlever ,&nbsp;Maria E. Scassa ,&nbsp;Ezequiel I. Surace ,&nbsp;Leonardo Romorini","doi":"10.1016/j.scr.2025.103728","DOIUrl":"10.1016/j.scr.2025.103728","url":null,"abstract":"<div><div>Two human induced pluripotent stem cell (hiPSC) lines, FLENIi002-A and FLENIi003-A, were generated from peripheral blood mononuclear cells (PBMCs) using the lentiviral-hSTEMCCA-loxP vector. FLENIi002-A was derived from a 52-year-old Down syndrome patient with Alzheimer’s disease and amyloid-beta brain accumulation. FLENIi003-A was derived from a cognitively unimpaired 51-year-old Down syndrome patient exhibiting no brain amyloid-beta deposition. Both lines retained the trisomy 21 genotype, and their pluripotency and differentiation potential were confirmed.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103728"},"PeriodicalIF":0.8,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143906396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation 具有RAI1杂合突变的Smith-Magenis综合征患者CSSi021-A（15665）人诱导多能干细胞系的产生和特性
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-04-26 DOI: 10.1016/j.scr.2025.103726
Angela Maria Giada Giovenale , Elisa Maria Turco , Ilaria Ferrone , Chiara Giacometti , Silvia Tomaselli , Edvige Vulcano , Daniela Ferrari , Ornella Candido , Laura Bernardini , Alessandro De Luca , Nadia Trivieri , Elena Binda , Roberta Onesimo , Stefano D’Arrigo , Giuseppe Zampino , Maria Pennuto , Angelo Luigi Vescovi , Jessica Diana Rosati
{"title":"Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation","authors":"Angela Maria Giada Giovenale ,&nbsp;Elisa Maria Turco ,&nbsp;Ilaria Ferrone ,&nbsp;Chiara Giacometti ,&nbsp;Silvia Tomaselli ,&nbsp;Edvige Vulcano ,&nbsp;Daniela Ferrari ,&nbsp;Ornella Candido ,&nbsp;Laura Bernardini ,&nbsp;Alessandro De Luca ,&nbsp;Nadia Trivieri ,&nbsp;Elena Binda ,&nbsp;Roberta Onesimo ,&nbsp;Stefano D’Arrigo ,&nbsp;Giuseppe Zampino ,&nbsp;Maria Pennuto ,&nbsp;Angelo Luigi Vescovi ,&nbsp;Jessica Diana Rosati","doi":"10.1016/j.scr.2025.103726","DOIUrl":"10.1016/j.scr.2025.103726","url":null,"abstract":"<div><div>Smith-Magenis syndrome (SMS) is a rare neurodevelopmental disorder caused by haploinsufficiency of the Retinoic Acid Induced 1 (RAI1) gene located at 17p11.2. It is estimated that approximately 90% of patients have a 17p11.2 deletion, including the RAI1 gene, while the remaining 10% exhibit a heterozygous mutation in the RAI1 gene. In this study, we report the generation of a human induced pluripotent stem cell (hiPSC) line derived from a 14-year-old female with an RAI1 mutation, which led to the onset of the SMS phenotype, starting from primary fibroblasts.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103726"},"PeriodicalIF":0.8,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Generation of a gene-corrected isogenic human iPS cell line (CSUASOi006-A-2) from a retinitis pigmentosa patient using CRISPR/Cas9 technology 利用CRISPR/Cas9技术从视网膜色素变性患者身上获得基因校正的等基因人类iPS细胞系(CSUASOi006-A-2
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-04-26 DOI: 10.1016/j.scr.2025.103727
Hang Chen , Yuqin Liang , Yuan Liang , Yuexi Chen , Xiaoxue Li , Ruting Zhang , Chunwen Duan , Wenwei Li , Zekai Cui , Jianing Gu , Chengcheng Ding , Xihao Sun , Jiansu Chen
{"title":"Generation of a gene-corrected isogenic human iPS cell line (CSUASOi006-A-2) from a retinitis pigmentosa patient using CRISPR/Cas9 technology","authors":"Hang Chen ,&nbsp;Yuqin Liang ,&nbsp;Yuan Liang ,&nbsp;Yuexi Chen ,&nbsp;Xiaoxue Li ,&nbsp;Ruting Zhang ,&nbsp;Chunwen Duan ,&nbsp;Wenwei Li ,&nbsp;Zekai Cui ,&nbsp;Jianing Gu ,&nbsp;Chengcheng Ding ,&nbsp;Xihao Sun ,&nbsp;Jiansu Chen","doi":"10.1016/j.scr.2025.103727","DOIUrl":"10.1016/j.scr.2025.103727","url":null,"abstract":"<div><div>Retinitis pigmentosa (RP) is a heterogeneous group of hereditary eye disorders characterized by a progressive degeneration of the light-sensing photoreceptor cells in the retina. Currently, there are no effective treatments. In a previous study, we generated a human induced pluripotent stem (iPS) cell line (CSUASOi006-A) from an RP patient carrying a PRPF8 (c.C5792T) mutation. In this study, we corrected the c.5792C &gt; T mutation in the PRPF8 gene using CRISPR/Cas9 technology and generated an isogenic control cell line (CSUASOi006-A-2). This provides an important cellular resource for RP research.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"86 ","pages":"Article 103727"},"PeriodicalIF":0.8,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143895875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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