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Generation of a human iPSC line (NUMNi002-A) from a patient with nephrotic syndrome harboring an INF2 gene variant 从携带INF2基因变异的肾病综合征患者身上产生的人类iPSC细胞系(NUMNi002-A
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-09-20 DOI: 10.1016/j.scr.2025.103842
Chikao Onogi , Akihito Tanaka , Kazuhiro Furuhashi , Asuka Horinouchi , Kumiko Fujieda , Jun Matsumoto , Keita Hattori , Akiko Owaki , Tomohiro Kawazoe , Akihisa Kato , Yu Watanabe , Eri Koshi-Ito , Kayaho Maeda , Hangsoo Kim , Noritoshi Kato , Itaru Kushima , Norio Ozaki , Shoichi Maruyama
{"title":"Generation of a human iPSC line (NUMNi002-A) from a patient with nephrotic syndrome harboring an INF2 gene variant","authors":"Chikao Onogi ,&nbsp;Akihito Tanaka ,&nbsp;Kazuhiro Furuhashi ,&nbsp;Asuka Horinouchi ,&nbsp;Kumiko Fujieda ,&nbsp;Jun Matsumoto ,&nbsp;Keita Hattori ,&nbsp;Akiko Owaki ,&nbsp;Tomohiro Kawazoe ,&nbsp;Akihisa Kato ,&nbsp;Yu Watanabe ,&nbsp;Eri Koshi-Ito ,&nbsp;Kayaho Maeda ,&nbsp;Hangsoo Kim ,&nbsp;Noritoshi Kato ,&nbsp;Itaru Kushima ,&nbsp;Norio Ozaki ,&nbsp;Shoichi Maruyama","doi":"10.1016/j.scr.2025.103842","DOIUrl":"10.1016/j.scr.2025.103842","url":null,"abstract":"<div><div>A variant of <em>INF2</em> has been identified as a risk factor for nephrotic syndrome (focal segmental glomerulosclerosis; FSGS). The mechanism by which this variant contributes to FSGS onset remains unclear. Furthermore, treatment for FSGS remains to be established.We generated induced pluripotent stem cells (iPSCs) from a patient with FSGS caused by the <em>INF2</em> variant. These iPSCs express stemness markers and can differentiate into the three germ layers <em>in vitro</em>. These iPSCs will be useful tools for understanding the pathophysiology of this type of FSGS and to screen the relevant treatment.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103842"},"PeriodicalIF":0.7,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145118681","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
Establishment of an induced pluripotent stem cell line (HMUCPi001-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3 c.3072C > A mutation 从携带MYBPC3 c.3072C > a突变的肥厚性心肌病患者身上建立诱导多能干细胞系（HMUCPi001-A）
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-09-20 DOI: 10.1016/j.scr.2025.103841
Dongping Liu , Mingyu Yang , Shasha Fan , Manyu Gong , Ying Zhang , Yanan Jiang , Siyu Wang , Hao Wang , Maomao Zhang , Ying Zhang
{"title":"Establishment of an induced pluripotent stem cell line (HMUCPi001-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3 c.3072C > A mutation","authors":"Dongping Liu ,&nbsp;Mingyu Yang ,&nbsp;Shasha Fan ,&nbsp;Manyu Gong ,&nbsp;Ying Zhang ,&nbsp;Yanan Jiang ,&nbsp;Siyu Wang ,&nbsp;Hao Wang ,&nbsp;Maomao Zhang ,&nbsp;Ying Zhang","doi":"10.1016/j.scr.2025.103841","DOIUrl":"10.1016/j.scr.2025.103841","url":null,"abstract":"<div><div>Hypertrophic cardiomyopathy (HCM) is an inherited cardiovascular disorder characterized by left ventricular hypertrophy and an elevated risk of sudden cardiac death. Cardiac myosin binding protein C (<em>MYBPC3</em>) is the most frequently mutated gene leading to HCM. In this study, peripheral blood mononuclear cells isolated from an HCM patient harboring a heterozygous MYBPC3 missense mutation (c.3072C &gt; A; p.S1024R) were reprogrammed via Sendai virus vectors to generate a patient-specific induced pluripotent stem cell (iPSC) line. The iPSC line exhibits normal morphology and karyotype, alongside definitive hallmarks of pluripotency, including trilineage differentiation potential.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103841"},"PeriodicalIF":0.7,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145118679","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 Flattop-T2A-H2B-Venus x C-peptide-mCherry double reporter human iPSC line to monitor WNT/Planar cell polarity pathway activity 构建flattp - t2a - h2b - venus x C-peptide-mCherry双报告细胞系，监测WNT/Planar细胞极性通路活性
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-09-19 DOI: 10.1016/j.scr.2025.103838
Tobias Greisle , Ines Kunze , Xianming Wang , Andrzej R. Malinowski , Anika Böttcher , Heiko Lickert , Ingo Burtscher
{"title":"Generation of a Flattop-T2A-H2B-Venus x C-peptide-mCherry double reporter human iPSC line to monitor WNT/Planar cell polarity pathway activity","authors":"Tobias Greisle ,&nbsp;Ines Kunze ,&nbsp;Xianming Wang ,&nbsp;Andrzej R. Malinowski ,&nbsp;Anika Böttcher ,&nbsp;Heiko Lickert ,&nbsp;Ingo Burtscher","doi":"10.1016/j.scr.2025.103838","DOIUrl":"10.1016/j.scr.2025.103838","url":null,"abstract":"<div><div>Deriving functional β-cells from human induced pluripotent stem cells (hiPSCs) holds potential for cell replacement therapy, disease modeling, and drug testing in diabetes research. Wnt/Planar cell polarity (PCP) signaling is crucial for endocrine cell development and β-cell maturation in murine models and can be tracked by the expression of the tissue-specific effector gene <em>Flattop</em>. Here, we report the generation of a human fluorescent <em>FLTP</em>/<em>CFAP126</em> (Flattop-T2A-H2B-Venus) and FLTP-Insulin (Flattop-T2A-H2B-Venus x C-peptide-mCherry) double reporter by CRISPR/Cas9 gene editing. These hiPSC reporter lines allow monitoring of WNT/PCP signaling during endocrine cell formation and studying its role in β-cells in a human model system.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103838"},"PeriodicalIF":0.7,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145118682","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 induced pluripotent stem cell line (SDCHi005-A) from peripheral blood mononuclear cells of a patient with epilepsy 从癫痫患者外周血单个核细胞中生成人诱导多能干细胞系（SDCHi005-A）
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-09-19 DOI: 10.1016/j.scr.2025.103839
Song Su , Ying Ren , Tong Zhang , Wandong Hu , Hongwei Zhang , Yong Liu , Chunhong Duan
{"title":"Generation of a human induced pluripotent stem cell line (SDCHi005-A) from peripheral blood mononuclear cells of a patient with epilepsy","authors":"Song Su ,&nbsp;Ying Ren ,&nbsp;Tong Zhang ,&nbsp;Wandong Hu ,&nbsp;Hongwei Zhang ,&nbsp;Yong Liu ,&nbsp;Chunhong Duan","doi":"10.1016/j.scr.2025.103839","DOIUrl":"10.1016/j.scr.2025.103839","url":null,"abstract":"<div><div>Epilepsy is a chronic cerebral disorder characterized by recurrent, episodic, and transient dysfunction of the central nervous system due to abnormal and excessive neuronal activity. In this study, peripheral blood mononuclear cells (PBMCs) were isolated from a young epilepsy patient carrying a DEP domain-containing 5 (DEPDC5) gene nonsense mutation, which was confirmed through clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established using a non-integrating method carrying plasmids encoding OCT4, SOX2, KLF4, BCL-XL and C-MYC. The constructed iPSCs exhibited typical pluripotent cells morphology, normal karyotype, and demonstrated trilineage differentiation potential.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103839"},"PeriodicalIF":0.7,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145118678","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 two induced pluripotent stem cell lines from dilated cardiomyopathy patients harbouring TTN mutations 来自携带TTN突变的扩张型心肌病患者的两种诱导多能干细胞系的产生
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-09-14 DOI: 10.1016/j.scr.2025.103834
Renke Tan , Yi-Ing Chen , Yanjun Zha , Todd Herron , Francois Haddad , Karim Sallam , Joseph C. Wu
{"title":"Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients harbouring TTN mutations","authors":"Renke Tan ,&nbsp;Yi-Ing Chen ,&nbsp;Yanjun Zha ,&nbsp;Todd Herron ,&nbsp;Francois Haddad ,&nbsp;Karim Sallam ,&nbsp;Joseph C. Wu","doi":"10.1016/j.scr.2025.103834","DOIUrl":"10.1016/j.scr.2025.103834","url":null,"abstract":"<div><div>Dilated cardiomyopathy (DCM) is a severe form of heart disease characterized by ventricular enlargement and impaired contractile function, often with a genetic basis. Truncating mutations in <em>TTN</em>, encoding the sarcomere protein titin, are one of the most common causes of DCM. To model titin-related DCM <em>in vitro</em>, we have established two human induced pluripotent stem cell (iPSC) lines from individuals who were diagnosed with DCM, each carrying a heterozygous truncating mutation within <em>the TTN</em> coding region. We have confirmed that both cell lines are normal in cell morphology, robustly express key pluripotency markers, maintain a normal diploid karyotype, and can differentiate into all three primary germ layers. These patient-specific iPSC lines represent an invaluable resource for investigating the complexity of titin-related cardiomyopathy.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103834"},"PeriodicalIF":0.7,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145109385","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
iPSC line DHMCi010-A is derived from a hereditary nephrotic syndrome patient with an autosomal recessive NPHS2 mutation iPSC系DHMCi010-A来源于一名患有常染色体隐性NPHS2突变的遗传性肾病综合征患者
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-09-14 DOI: 10.1016/j.scr.2025.103836
Robert Matthes , Mansoureh Tabatabaeifar , Karin Burau , Franz Schaefer , Sabine Jung-Klawitter
{"title":"iPSC line DHMCi010-A is derived from a hereditary nephrotic syndrome patient with an autosomal recessive NPHS2 mutation","authors":"Robert Matthes ,&nbsp;Mansoureh Tabatabaeifar ,&nbsp;Karin Burau ,&nbsp;Franz Schaefer ,&nbsp;Sabine Jung-Klawitter","doi":"10.1016/j.scr.2025.103836","DOIUrl":"10.1016/j.scr.2025.103836","url":null,"abstract":"<div><div>Recessive mutations in the <em>NPHS2</em> gene, encoding the podocyte membrane protein podocin, are the most common genetic cause of childhood-onset nephrotic syndrome. To generate induced pluripotent stem cells (iPSCs), peripheral blood mononuclear cells (PBMCs) from a male patient with a homozygous <em>NPHS2</em> mutation (c.413G&gt;A(;)(c.413G&gt;A)) were reprogrammed using the Cytotune®-iPSC 2.0 Sendai Reprogramming Kit (Invitrogen). The resulting iPSCs exhibit normal morphology and karyotype, express undifferentiated hPSC state markers, and demonstrate the capacity for spontaneous differentiation into all three germ layers <em>in vitro</em>.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103836"},"PeriodicalIF":0.7,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145095529","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 two human induced pluripotent stem cell lines from patient-derived fibroblasts with severe congenital defects of the vertebrae and neural tube 从患有严重椎骨和神经管先天性缺陷的患者来源的成纤维细胞中产生两种人类诱导多能干细胞系。
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-09-14 DOI: 10.1016/j.scr.2025.103837
Jin-A Lee , J.Vanessa Conrad , Margaret Rusteika , Tarek H. Drissi , Talia Zhang , Shiying Liu , Saumyaa Singla , Lian Willetts , Cameron Semper , Derrick Rancourt , Li-Fang Chu
{"title":"Generation of two human induced pluripotent stem cell lines from patient-derived fibroblasts with severe congenital defects of the vertebrae and neural tube","authors":"Jin-A Lee ,&nbsp;J.Vanessa Conrad ,&nbsp;Margaret Rusteika ,&nbsp;Tarek H. Drissi ,&nbsp;Talia Zhang ,&nbsp;Shiying Liu ,&nbsp;Saumyaa Singla ,&nbsp;Lian Willetts ,&nbsp;Cameron Semper ,&nbsp;Derrick Rancourt ,&nbsp;Li-Fang Chu","doi":"10.1016/j.scr.2025.103837","DOIUrl":"10.1016/j.scr.2025.103837","url":null,"abstract":"<div><div>Severe congenital defects of the vertebrae and neural tube arise from complex genetic, environmental, and nutritional factors during early pregnancy. Despite extensive research, the root causes of these conditions remain poorly understood. To establish patient-specific research resources, we generated two induced pluripotent stem cell (iPSC) lines from fibroblasts of patients with vertebral malformation and anencephaly. Both lines exhibit normal karyotypes and confirmed pluripotency through qPCR, immunofluorescence, differentiation into lineage-specific progenitors <em>in vitro</em>, and teratoma formation in mice. We anticipate that these iPSC lines will serve as valuable tools for investigating the mechanisms underlying abnormal vertebral and neural tube development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103837"},"PeriodicalIF":0.7,"publicationDate":"2025-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150597","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
Down syndrome (Trisomy 21) disease-specific human embryonic stem cell (hESC) lines, UMICHe003-A/UM152-1, UMICHe004-A/UM202-1, and UMICHe005-A/UM229-1 唐氏综合症（21三体）疾病特异性人类胚胎干细胞（hESC）系，UMICHe003-A/UM152-1， UMICHe004-A/UM202-1和UMICHe005-A/UM229-1
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-09-13 DOI: 10.1016/j.scr.2025.103831
Gary D. Smith , Laura Keller , Ty Hergenreder , Bing Ye
{"title":"Down syndrome (Trisomy 21) disease-specific human embryonic stem cell (hESC) lines, UMICHe003-A/UM152-1, UMICHe004-A/UM202-1, and UMICHe005-A/UM229-1","authors":"Gary D. Smith ,&nbsp;Laura Keller ,&nbsp;Ty Hergenreder ,&nbsp;Bing Ye","doi":"10.1016/j.scr.2025.103831","DOIUrl":"10.1016/j.scr.2025.103831","url":null,"abstract":"<div><div>Down syndrome (DS), the chromosomal disorder caused by trisomy of chromosome 21 (Tri21), presents many neurological conditions, including intellectual disability (ID), autism spectrum disorder (ASD), epilepsy, and Alzheimer’s disease (AD), and is the most common genetic cause of ID worldwide. Although some human chromosome 21 (HSA21) genes have been identified as key contributors to some of these pathologies, the mechanisms that link the triplication of HSA21 genes to most DS-related diseases remain largely unknown. To facilitate the discovery of HSA21 genes that underlie DS-related pathologies, we report here the establishment of three (3) female Tri21 disease-specific human embryonic stem cell (hESC) lines in the NIH hESC registry, UM152-1, UM202-1, and UM229-1. All three Tri21-hESC lines exhibit pluripotency, the ability to differentiate into three germ layers <em>in vitro</em>. These lines provide new human cellular models to study DS/Tri21 disease pathogenesis.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103831"},"PeriodicalIF":0.7,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145118680","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 induced pluripotent stem cell lines from patients with thoracic aortic aneurysm carrying the ACTA2 gene mutation 携带ACTA2基因突变的胸主动脉瘤患者诱导多能干细胞系的生成
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-09-12 DOI: 10.1016/j.scr.2025.103833
Tian-Ding Liu , Shuai Sun , Lu Ren , Yan Zhuge , Souhrid Mukherjee , David H. Liang , Joseph C. Wu
{"title":"Generation of induced pluripotent stem cell lines from patients with thoracic aortic aneurysm carrying the ACTA2 gene mutation","authors":"Tian-Ding Liu ,&nbsp;Shuai Sun ,&nbsp;Lu Ren ,&nbsp;Yan Zhuge ,&nbsp;Souhrid Mukherjee ,&nbsp;David H. Liang ,&nbsp;Joseph C. Wu","doi":"10.1016/j.scr.2025.103833","DOIUrl":"10.1016/j.scr.2025.103833","url":null,"abstract":"<div><div>Thoracic aortic aneurysms (TAA) are abnormal dilations of the aorta above the diaphragm. Mutations in the ACTA2 gene are among the most common genetic causes of TAA. Induced pluripotent stem cells (iPSCs) provide a platform for comprehensive biological investigations and the development of tailored medical strategies for this condition. Here, two iPSC lines were generated from TAA patients harboring the ACTA2 mutation, c.773 G &gt; A. Both iPSC lines demonstrated characteristic pluripotent stem cell morphology, expressed core pluripotency markers, maintained normal karyotypes, and possessed the capacity for trilineage differentiation. These cell lines represent a valuable resource for studying the genetic and cellular mechanisms underlying TAA pathogenesis associated with ACTA2 mutations.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103833"},"PeriodicalIF":0.7,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145095530","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
iPSC line DHMCi019-A is generated from a patient with hereditary nephrotic syndrome harboring compound heterozygous NPHS2 variants iPSC系DHMCi019-A是由遗传性肾病综合征患者产生的，该患者携带复合杂合NPHS2变异体。
IF 0.7 4区 医学
Stem cell research Pub Date : 2025-09-12 DOI: 10.1016/j.scr.2025.103835
Mansoureh Tabatabaeifar , Robert Matthes , Karin Burau , Franz Schaefer , Sabine Jung-Klawitter
{"title":"iPSC line DHMCi019-A is generated from a patient with hereditary nephrotic syndrome harboring compound heterozygous NPHS2 variants","authors":"Mansoureh Tabatabaeifar ,&nbsp;Robert Matthes ,&nbsp;Karin Burau ,&nbsp;Franz Schaefer ,&nbsp;Sabine Jung-Klawitter","doi":"10.1016/j.scr.2025.103835","DOIUrl":"10.1016/j.scr.2025.103835","url":null,"abstract":"<div><div>Mutations in <em>NPHS2</em>, encoding the slit diaphragm protein podocin, are a common cause of steroid-resistant nephrotic syndrome in children. Over 120 mutations have been identified, leading to diverse subcellular podocin localization patterns. Peripheral blood mononuclear cells (PBMCs) were obtained from a five-year-old female patient carrying a compound-heterozygous <em>NPHS2</em> mutation (c.379G&gt;A(;)c.857_858del). Patient-derived induced pluripotent stem cells (iPSCs) were generated using the Cytotune®-iPSC 2.0 Sendai Reprogramming Kit (Invitrogen). These iPSCs exhibited normal karyotype and morphology, with confirmed expression of undifferentiated hPSC state markers and differentiation potential into all three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103835"},"PeriodicalIF":0.7,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145081634","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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