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Generation, characterization, and validation of two human induced pluripotent stem cell lines from the peripheral blood of young and older adults 两种来自年轻人和老年人外周血的人类诱导多能干细胞系的产生、表征和验证。
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-01-27 DOI: 10.1016/j.scr.2025.103670
Dongli Yang , Jun Chen , Jerry H. Juratli , Andre Monteiro da Rocha , Allison Schley , Nadia R. Sutton
{"title":"Generation, characterization, and validation of two human induced pluripotent stem cell lines from the peripheral blood of young and older adults","authors":"Dongli Yang ,&nbsp;Jun Chen ,&nbsp;Jerry H. Juratli ,&nbsp;Andre Monteiro da Rocha ,&nbsp;Allison Schley ,&nbsp;Nadia R. Sutton","doi":"10.1016/j.scr.2025.103670","DOIUrl":"10.1016/j.scr.2025.103670","url":null,"abstract":"<div><div>Aging is a leading risk factor for the development of age-related diseases. However, how aging impacts human induced pluripotent stem cell (hiPSC) reprogramming, age-related epigenetic memory post-reprogramming, differentiation, and its potential applicability to cardiovascular regenerative medicine remains underexplored. We generated, characterized, and validated two hiPSC lines from human peripheral blood mononuclear cells (PBMCs) obtained from whole blood of young and older human donors. The two hiPSC lines expressed four pluripotency markers, have normal karyotypes and trilineage differentiation potential, and genetically match parental PBMCs. These lines are invaluable for regenerative medicine and exploring epigenetic-related molecular mechanisms that underlie aging and aging-related diseases.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103670"},"PeriodicalIF":0.8,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075543","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 an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln) 诱导多能干细胞系（UCLi026-A）从携带杂合变异体c.1253G >a的adcy5相关疾病患者中产生；(Arg418Gln页)
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-01-27 DOI: 10.1016/j.scr.2025.103669
Sharmin Alhaque , Dimitri Budinger , Barbara Garavaglia , Giovanna Zorzi , Serena Barral , Manju A. Kurian
{"title":"Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln)","authors":"Sharmin Alhaque ,&nbsp;Dimitri Budinger ,&nbsp;Barbara Garavaglia ,&nbsp;Giovanna Zorzi ,&nbsp;Serena Barral ,&nbsp;Manju A. Kurian","doi":"10.1016/j.scr.2025.103669","DOIUrl":"10.1016/j.scr.2025.103669","url":null,"abstract":"<div><div>Adenylyl cyclase 5 (ADCY5)-related diseases are a rare group of genetic disorders that commonly present in childhood. Heterozygous mutations in ADCY5 lead to ADCY5-related dyskinesia, comprising a wide array of disabling hyperkinetic movement disorders including chorea, myoclonus and/or dystonia. We generated an induced pluripotent stem cell line from the fibroblasts of an affected patient with the common heterozygous pathogenic variant, c.1253G &gt; A (p.Arg418Gln). This line was further characterised for pluripotency, differentiation potential and genomic integrity. This cell line, UCLi026-A (UCL-NG-ADCY5-001) can be utilized for <em>in vitro</em> disease modelling of ADCY5-related diseases, as well as for the development of novel therapeutic approaches.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103669"},"PeriodicalIF":0.8,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143294734","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 human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation SERPINA1突变的α -1抗胰蛋白酶缺乏症（AATD）患者诱导多能干细胞（iPSC）系ERPLi004-A的产生
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-01-25 DOI: 10.1016/j.scr.2025.103664
Harshini Surendran , Rajani Battu , Renjitha Gopurappilly , Chethala N. Vishnuprasad , Rajarshi Pal
{"title":"Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation","authors":"Harshini Surendran ,&nbsp;Rajani Battu ,&nbsp;Renjitha Gopurappilly ,&nbsp;Chethala N. Vishnuprasad ,&nbsp;Rajarshi Pal","doi":"10.1016/j.scr.2025.103664","DOIUrl":"10.1016/j.scr.2025.103664","url":null,"abstract":"<div><div>Alpha-1 antitrypsin deficiency (AATD) is an autosomal disorder that causes liver and lung disease. The risk of developing lung emphysema, chronic obstructive pulmonary disorder and liver cirrhosis is observed in &gt;75 % people affected with a homozygous mutation. Here, we describe the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) isolated from a AATD patient using non viral and non-integrating episomal vectors. The iPSC line expresses pluripotency markers, generates three germ layers in vitro and retains a normal karyotype (P20) and can provide an ideal tool for disease modelling, drug screening, and personalized medicine.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103664"},"PeriodicalIF":0.8,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068002","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 an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease 法布里病患者诱导多能干细胞系（SMBCi022-A）的产生。
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-01-23 DOI: 10.1016/j.scr.2025.103666
Zihan Li , Jing Luan , Yali Yang , Guowei Li , Zhouhui Hu , Che Yu , Yazhou Cui , Jinxiang Han
{"title":"Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease","authors":"Zihan Li ,&nbsp;Jing Luan ,&nbsp;Yali Yang ,&nbsp;Guowei Li ,&nbsp;Zhouhui Hu ,&nbsp;Che Yu ,&nbsp;Yazhou Cui ,&nbsp;Jinxiang Han","doi":"10.1016/j.scr.2025.103666","DOIUrl":"10.1016/j.scr.2025.103666","url":null,"abstract":"<div><div>Fabry disease (FD) is a systemic disease in which globotriaosylceramide and other naturally occurring glycosphingolipid accumulate in various tissues throughout the body due to mutation of α-galactosidase A (GLA). These induced pluripotent stem cells (iPSCs) were generated from a 10-year-old male patient’s urine carrying the <em>GLA</em> c.1080_1082del Fabry disease mutation. The iPSCs were validated by confirming the pluripotent markers expression, trilineage differentiation capability, normal karyotype and targeted mutation. This resource enables further assessment of the pathophysiological development of Fabry disease and serves as a model to develop drugs for treating Fabry disease.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103666"},"PeriodicalIF":0.8,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143047781","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 human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation 从3个携带RS1基因突变的男性XLRS患者身上获得人诱导多能干细胞系。
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-01-23 DOI: 10.1016/j.scr.2025.103665
Sang-Yun Kim , Yong-Min Choi , Yunho Park , Seung-Hyun Kim , Hyun Beom Song , Jeong Hun Kim , Ok-Seon Kwon , Kyung-Sook Chung
{"title":"Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation","authors":"Sang-Yun Kim ,&nbsp;Yong-Min Choi ,&nbsp;Yunho Park ,&nbsp;Seung-Hyun Kim ,&nbsp;Hyun Beom Song ,&nbsp;Jeong Hun Kim ,&nbsp;Ok-Seon Kwon ,&nbsp;Kyung-Sook Chung","doi":"10.1016/j.scr.2025.103665","DOIUrl":"10.1016/j.scr.2025.103665","url":null,"abstract":"<div><div>X-linked retinoschisis (XLRS) is an inherited retinal disease caused by mutation in <em>RS1</em> gene. Due to limited cell sources available for studying retinal disease, patient-derived induced pluripotent stem cells (iPSCs) offer an essential resource for developing XLRS disease models. In this study, we generated iPSC lines from three patients diagnosed with XLRS, each carrying distinct pathogenic <em>RS1</em> variant (c.421C &gt; T, c.130_140del and c.214G &gt; A). These iPSC lines demonstrated pluripotency, <em>in vitro</em> differentiation potential, and a normal karyotype, making them valuable resource for investigating XLRS pathogenesis and for advancing therapeutic development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103665"},"PeriodicalIF":0.8,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080893","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 induced pluripotent stem cell line ISMMSi060-A from a patient with combined oxidative phosphorylation deficiency 25 联合氧化磷酸化缺陷患者诱导多能干细胞系ISMMSi060-A的生成
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-01-20 DOI: 10.1016/j.scr.2025.103662
Sophia E. Salemi , Erdene Baljinnyam , Norman N. Liu , Ruiqi Hu , Samuele G. Marro , Bryn D. Webb
{"title":"Generation of induced pluripotent stem cell line ISMMSi060-A from a patient with combined oxidative phosphorylation deficiency 25","authors":"Sophia E. Salemi ,&nbsp;Erdene Baljinnyam ,&nbsp;Norman N. Liu ,&nbsp;Ruiqi Hu ,&nbsp;Samuele G. Marro ,&nbsp;Bryn D. Webb","doi":"10.1016/j.scr.2025.103662","DOIUrl":"10.1016/j.scr.2025.103662","url":null,"abstract":"<div><div>We have described a novel mitochondrial disorder caused by biallelic pathogenic variants in the methionyl-tRNA synthetase 2 gene (<em>MARS2</em>), now termed Combined oxidative phosphorylation deficiency 25 (COXPD25). This study focuses on the generation and characterization of induced pluripotent stem cells (iPSCs) from fibroblasts of a patient with COXPD25. The resulting iPSC line ISMMSi060-A, carries the compound heterozygous variants c.550C &gt; T; p.Gln184* and c.424C &gt; T; p.Arg142Trp in <em>MARS2</em>. The iPSCs exhibited normal cell morphology, expression of pluripotency markers, genome integrity, and the ability to differentiate.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103662"},"PeriodicalIF":0.8,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143060703","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 two induced pluripotent stem cell lines from Loeys-Dietz syndrome patients carrying heterologous mutation of TGFBR1 来自携带TGFBR1异源突变的Loeys-Dietz综合征患者的两种诱导多能干细胞系的生成
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-01-20 DOI: 10.1016/j.scr.2025.103663
Renjie Shang , Junyi Sun , Amira G Flores Banuelos , Yang Zhou , David H. Liang , Joseph C. Wu
{"title":"Generation of two induced pluripotent stem cell lines from Loeys-Dietz syndrome patients carrying heterologous mutation of TGFBR1","authors":"Renjie Shang ,&nbsp;Junyi Sun ,&nbsp;Amira G Flores Banuelos ,&nbsp;Yang Zhou ,&nbsp;David H. Liang ,&nbsp;Joseph C. Wu","doi":"10.1016/j.scr.2025.103663","DOIUrl":"10.1016/j.scr.2025.103663","url":null,"abstract":"<div><div>Loeys-Dietz Syndrome (LDS) is a rare autosomal dominant connective tissue disorder characterized by vascular aneurysms, arterial dissections, and distinct craniofacial and skeletal anomalies. This study focuses on generating and characterizing two induced pluripotent stem cell (iPSC) lines derived from LDS patients with distinct mutations in the TGFBR1 gene. These two iPSC lines were found to display characteristic iPSC morphology, strong expression of pluripotency markers, typical karyotypes, and the capacity for differentiation into the three germ layers. These iPSC lines provide essential models for exploring the underlying mechanisms of LDS and hold significant potential for advancing personalized treatment approaches.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103663"},"PeriodicalIF":0.8,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068017","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, establishment and characterization of three pluripotent stem cell lines (CVTTHi002-A, CVTTHi003-A and CVTTHi004-A) from primary testicular somatic cells isolated from two prepuberal and one peripuberal Klinefelter Syndrome (47 XXY) patients 从2例青春期前和1例青春期周围Klinefelter综合征（47 XXY）患者的原代睾丸体细胞制备、建立和鉴定3个多能干细胞系（CVTTHi002-A、CVTTHi003-A和CVTTHi004-A）。
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-01-18 DOI: 10.1016/j.scr.2025.103657
Myriam Martin-Inaraja , Irene Romayor , Andrea Sáez de Cámara , Lara Herrera , Ainhoa Palacios , Maria Villaverde , Silvia Santos , Miguel Ángel Vesga , Beatriz Barreña , Ana María Aransay , Juan Anguita , Estíbaliz Solorzano , María Begoña Prieto , Roberto Matorras , Cristina Eguizabal
{"title":"Generation, establishment and characterization of three pluripotent stem cell lines (CVTTHi002-A, CVTTHi003-A and CVTTHi004-A) from primary testicular somatic cells isolated from two prepuberal and one peripuberal Klinefelter Syndrome (47 XXY) patients","authors":"Myriam Martin-Inaraja ,&nbsp;Irene Romayor ,&nbsp;Andrea Sáez de Cámara ,&nbsp;Lara Herrera ,&nbsp;Ainhoa Palacios ,&nbsp;Maria Villaverde ,&nbsp;Silvia Santos ,&nbsp;Miguel Ángel Vesga ,&nbsp;Beatriz Barreña ,&nbsp;Ana María Aransay ,&nbsp;Juan Anguita ,&nbsp;Estíbaliz Solorzano ,&nbsp;María Begoña Prieto ,&nbsp;Roberto Matorras ,&nbsp;Cristina Eguizabal","doi":"10.1016/j.scr.2025.103657","DOIUrl":"10.1016/j.scr.2025.103657","url":null,"abstract":"<div><div>Klinefelter Syndrome (KS) is an aneuploid genetic condition in males characterized by at least one additional copy of the X chromosome. Due to fibrotic degeneration of the testis, these patients suffer infertility in the future. The pathogenic mechanism by which this occurs is still not well known. Here, we establish three Induced Pluripotent Stem cell (iPSC) lines derived from prepuberal and peripuberal KS patient’s testicular somatic cells. These could be the first steps towards the creation of an <em>in vitro</em> platform to analyze the molecular mechanisms underlying pathophysiology of the testes in KS patients.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103657"},"PeriodicalIF":0.8,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143060706","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 human induced pluripotent stem cell line (BIHi292-A) from PBMCs of a female patient diagnosed with Nasu-Hakola disease (NHD)/polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) carrying a novel heterozygous mutation in the TREM2 gene 从诊断为Nasu-Hakola病(NHD)/多囊性脂膜性骨发育不良伴硬化性白质脑病（PLOSL）的女性患者的PBMCs中产生人诱导多能干细胞（BIHi292-A），携带tre2基因的新杂合突变。
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-01-15 DOI: 10.1016/j.scr.2025.103660
Ria Göttert , Valeria Fernandez Vallone , Harald Stachelscheid , Jakob Johannes Metzger , Cassandra Carao Caedo , Maria Buthut , Harald Prüss , Matthias Endres , Simone Schilling , Karen Gertz
{"title":"Generation of a human induced pluripotent stem cell line (BIHi292-A) from PBMCs of a female patient diagnosed with Nasu-Hakola disease (NHD)/polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) carrying a novel heterozygous mutation in the TREM2 gene","authors":"Ria Göttert ,&nbsp;Valeria Fernandez Vallone ,&nbsp;Harald Stachelscheid ,&nbsp;Jakob Johannes Metzger ,&nbsp;Cassandra Carao Caedo ,&nbsp;Maria Buthut ,&nbsp;Harald Prüss ,&nbsp;Matthias Endres ,&nbsp;Simone Schilling ,&nbsp;Karen Gertz","doi":"10.1016/j.scr.2025.103660","DOIUrl":"10.1016/j.scr.2025.103660","url":null,"abstract":"<div><div>NHD/PLOSL is an orphan disease characterized by progressive presenile dementia associated with recurrent fractures due to polycystic bone lesions. In this study, we generated the human induced pluripotent stem cell (hiPSC) line BIHi292-A from a 30-year-old women diagnosed with NHD/PLOSL, carrying two compound heterozygous frameshift mutations [c.313del (p.Ala105fs) and c.199del (p.His67fs)] in the <em>TREM2</em> (triggering receptor expressed on myeloid cells 2) gene. BIHi292-A hiPSCs are karyotypically normal, express typical markers for the undifferentiated state and have pluripotent differentiation potential. BIHi292-A cells will provide a valuable tool for investigating pathogenic mechanisms of NHD/PLOSL and TREM2-related research questions.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103660"},"PeriodicalIF":0.8,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068015","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 human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12 从携带ABHD12双等位基因变异的PHARC综合征患者身上获得人类iPSC细胞系（UCLi025-A）
IF 0.8 4区 医学
Stem cell research Pub Date : 2025-01-13 DOI: 10.1016/j.scr.2025.103661
Sara Romero-Vázquez , Katy Linkens , Lyes Toualbi , Daniel Jackson , Cécile Méjécase , Henry Houlden , Mariya Moosajee
{"title":"Generation of a human iPSC line (UCLi025-A) from a patient with PHARC syndrome harbouring biallelic variants in ABHD12","authors":"Sara Romero-Vázquez ,&nbsp;Katy Linkens ,&nbsp;Lyes Toualbi ,&nbsp;Daniel Jackson ,&nbsp;Cécile Méjécase ,&nbsp;Henry Houlden ,&nbsp;Mariya Moosajee","doi":"10.1016/j.scr.2025.103661","DOIUrl":"10.1016/j.scr.2025.103661","url":null,"abstract":"<div><div>A human induced pluripotent stem cell (hiPSC) line (UCLi025-A) was generated from dermal fibroblast cells from a 42-year-old female donor with polyneuropathy, hearing loss, retinitis pigmentosa and early-onset cataract (PHARC) syndrome carrying a homozygous nonsense variant in <em>ABHD12</em> c.193C&gt;T, p.(Arg65*). Fibroblasts were confirmed to carry the variant by Sanger sequencing and subsequently reprogrammed using non-integrating episomal plasmids generating a hiPSC line (UCLi025-A). This established cell line was validated for pluripotency markers expression, <em>in vitro</em> differentiation potential and normal karyotype. The utilization of this cell line will serve as a valuable resource for modelling PHARC syndrome and identification of therapeutic targets.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"83 ","pages":"Article 103661"},"PeriodicalIF":0.8,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143011726","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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