Yuxin Jiang , Hong Wang , Lihong Jiang , Jieqiong Chen , Tong Li , Guanran Zhang , Xueli Chen , Mei Jiang , Xiaodong Sun
{"title":"Generation of the induced pluripotent stem cell line SJTUGHi004-A derived from a Best’s disease patient with c.763C > T mutation in BEST1 gene","authors":"Yuxin Jiang , Hong Wang , Lihong Jiang , Jieqiong Chen , Tong Li , Guanran Zhang , Xueli Chen , Mei Jiang , Xiaodong Sun","doi":"10.1016/j.scr.2025.103806","DOIUrl":"10.1016/j.scr.2025.103806","url":null,"abstract":"<div><div>Best’s disease (BD), referred to as Best vitelliform macular dystrophy, is an autosomal dominant macular degeneration caused by mutations in the BESTROPHIN1 (<em>BEST1</em>) gene. Here, we generated an induced pluripotent stem cell (iPSC) line by the non-integrative Sendai-virus delivery system derived from peripheral blood mononuclear cells (PBMCs) of a patient with c.763C > T mutation in the <em>BEST1</em> gene. The iPSC line was characterized and validated for the karyotype stability, pluripotency markers, and differentiation potential <em>in vitro</em>, which may serve as a powerful model for exploring the pathological mechanism and pharmaceutical development.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103806"},"PeriodicalIF":0.7,"publicationDate":"2025-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144888728","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}
{"title":"Generation of induced pluripotent stem cell lines from three LGMD R1 patients carrying CAPN3 hypomorphic intronic variant c.1746-20C > G","authors":"Karina Goluba , Vadims Parfejevs , Anastasija Neimane , Anastasija Tvoronovica , Baiba Lace , Mehrnaz Ghazvini , Inna Inashkina , Una Riekstina","doi":"10.1016/j.scr.2025.103803","DOIUrl":"10.1016/j.scr.2025.103803","url":null,"abstract":"<div><div>Calpainopathy is a progressive autosomal recessive limb girdle muscular dystrophy (LGMD R1) caused by variants in the calpain 3 (<em>CAPN3)</em> gene. We have shown that the hypomorphic intronic mutation c.1746-20C > G, which is common in Latvia (MAF 0.237), causes incorrect splicing of the <em>CAPN3</em> products that in combination with c.643 T > C variant in <em>trans</em> position leads to the development of LGMD clinical symptoms. Our project aims to generate calpainopathy patient-derived induced pluripotent stem cells (iPSCs) and create a disease model that recapitulates unique <em>CAPN3</em> variant.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103803"},"PeriodicalIF":0.7,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144865751","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}
Rohin Ramchandani , Chanatjit Cheawsamoot , Giovanni A. Torres , Jennifer Arthur Ataam , Dawn Siegel , Ioannis Karakikes
{"title":"Generation of human induced pluripotent stem cell lines from patients with PHACE syndrome","authors":"Rohin Ramchandani , Chanatjit Cheawsamoot , Giovanni A. Torres , Jennifer Arthur Ataam , Dawn Siegel , Ioannis Karakikes","doi":"10.1016/j.scr.2025.103802","DOIUrl":"10.1016/j.scr.2025.103802","url":null,"abstract":"<div><div>PHACE syndrome (posterior fossa anomalies, hemangiomas, arterial anomalies, cardiac defects, and eye anomalies) represents a series of multisystem structural birth defects associated with a benign infantile hemangioma. This rare disease presents a variety of symptoms, and its genetic etiology remains unknown. We isolated peripheral mononuclear blood cells (PBMCs) from three patients with PHACE syndrome and generated induced pluripotent stem cell (iPSC) lines using Sendai virus reprogramming. Each line exhibits normal iPSC morphology, high expression of pluripotency factor genes, and trilineage differentiation capability. These lines are valuable for modeling PHACE syndrome <em>in vitro</em> to explore the disease mechanism and screen for potential therapeutics.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103802"},"PeriodicalIF":0.7,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144842545","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}
Jie Shi , Jiao Yang , Huijun Gao , Lan Yang , Yinpeng Zhang , Ansheng Zhao , Rui Yang , Zhonghong Xiong , Jing Yang , Bei Gao
{"title":"Generation of a human induced pluripotent stem cell line (LZUSHi003-A) from peripheral mononuclear cells of a patient carrying the c.3682delG mutation in the dystrophin gene","authors":"Jie Shi , Jiao Yang , Huijun Gao , Lan Yang , Yinpeng Zhang , Ansheng Zhao , Rui Yang , Zhonghong Xiong , Jing Yang , Bei Gao","doi":"10.1016/j.scr.2025.103800","DOIUrl":"10.1016/j.scr.2025.103800","url":null,"abstract":"<div><div>Duchenne muscular dystrophy (DMD) is characterized by progressive muscle degeneration and is caused by mutations in the dystrophin gene. Here, we used Sendai virus to generate a human induced pluripotent stem cell line, LZUSHi003-A, from the peripheral mononuclear cells of a 13-year-old male patient carrying the <em>DMD</em> gene mutation c.3682delG. The LZUSHi003-A cell line retained this mutation, while expressing pluripotency markers. Additionally, it demonstrated a normal karyotype and could differentiate into three embryonic germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103800"},"PeriodicalIF":0.7,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144831574","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}
{"title":"Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis)","authors":"Gorka Fernández-Eulate , Céline Banal , Solène Renault , Nathalie Lefort , Yann Nadjar","doi":"10.1016/j.scr.2025.103801","DOIUrl":"10.1016/j.scr.2025.103801","url":null,"abstract":"<div><div>Late-Onset Tay-Sachs (LOTS) disease is caused by mutations in the <em>HEXA</em> gene associated with a deficiency in the lysosomal enzyme β-hexosaminidase A, ultimately leading to an accumulation of ganglioside GM2. Tay-Sachs disease presents with heterogeneous neurological manifestations depending on age at onset, LOTS being specifically characterized by spinal motor neuron (SMN) degeneration. The c.805G > A (p.Gly269Ser) mutation in the <em>HEXA</em> gene is the most frequent in patients with LOTS and associated with a higher residual activity. Nevertheless, the mechanisms underlying SMN degeneration are unknown, given that there is no relevant experimental model to study LOTS.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103801"},"PeriodicalIF":0.7,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144852443","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}
Ying Wang , Yan-Li Wang , Ming-Xia Du , Zi-Bing Jin , Xiao Zhang
{"title":"Generation of a human iPSC line (BTHBIOi001-A) from a retinitis pigmentosa patient with CNGA1 gene mutation","authors":"Ying Wang , Yan-Li Wang , Ming-Xia Du , Zi-Bing Jin , Xiao Zhang","doi":"10.1016/j.scr.2025.103798","DOIUrl":"10.1016/j.scr.2025.103798","url":null,"abstract":"<div><div>Retinitis pigmentosa (RP) is a group of inherited retinal disorders caused by genetic mutations, leading to progressive photoreceptors degeneration and eventual blindness. Mutations in CNGA1 can cause autosomal recessive retinitis pigmentosa (ARRP). Here, a human iPSC line of a retinitis pigmentosa patient was generated, with the mutation of CNGA1 gene (homozygous c.1621G > A; p.R 420 > Q), by using a non-integrating episomal vector system including OCT4, SOX2, c-Myc and KLF4. It is identified that the cell line showed a normal female karyotype (46, XX), expressed pluripotency markers, and had the ability to differentiate into three germ layers in vitro.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103798"},"PeriodicalIF":0.7,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144828198","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}
Diem Thi Ngoc Huynh , Chikage Noishiki , Jacquelyn Lai , Pourya Yarahmadi , Thao Le , Dipti Tripathi , Ines Ross Tacco , Amit Manhas , Karim Sallam , Ian Y. Chen , Nazish Sayed , Patricia K. Nguyen
{"title":"Generation of an induced pluripotent stem cell line from a malignant melanoma patient who developed the immune checkpoint inhibitor-related myasthenia gravis, myositis, and myocarditis overlap syndrome","authors":"Diem Thi Ngoc Huynh , Chikage Noishiki , Jacquelyn Lai , Pourya Yarahmadi , Thao Le , Dipti Tripathi , Ines Ross Tacco , Amit Manhas , Karim Sallam , Ian Y. Chen , Nazish Sayed , Patricia K. Nguyen","doi":"10.1016/j.scr.2025.103797","DOIUrl":"10.1016/j.scr.2025.103797","url":null,"abstract":"<div><div>Immune checkpoint inhibitors (ICI) are a pivotal class of immuno-oncology therapeutics that have improved survival rates for patients with cancer. Their widespread usage, however, is limited due to the development of serious and potentially deadly ICI-related side effects. To develop novel diagnostic and therapeutic strategies to identify and treat patients at risk, we need a better understanding of the underlying mechanisms mediating these potentially deadly side effects. To reach this goal, we have generated and validated induced pluripotent stem cells from the peripheral blood mononuclear cells of a melanoma patient who developed ICI-related myasthenia gravis, myositis, and myocarditis overlap syndrome.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103797"},"PeriodicalIF":0.7,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144810288","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}
{"title":"Generation of three iPSC lines from patients with CACNA1S related congenital myopathy","authors":"Reem Bou Akar , Karine Giraud-Triboult , Lina El Kassar , Hamel Mahiou , Pascal Fragner , Léa Lesueur , Olivier Chose , Florence Esselin , Mireille Cossée , Alexandra Benchoua , Frédéric Relaix , Edoardo Malfatti","doi":"10.1016/j.scr.2025.103796","DOIUrl":"10.1016/j.scr.2025.103796","url":null,"abstract":"<div><div><em>CACNA1S</em> gene variants are associated with congenital myopathies (CMyo) with triad dysfunction (triadopathies), malignant hyperthermia susceptibility, hypokalemic periodic paralysis and thyrotoxic periodic paralysis. Here, we generated three iPSC lines derived from patients with CMyo linked to both autosomal dominant and recessive <em>CACNA1S</em> variants (CACNA1S-CMyo). The three lines displayed typical iPSC morphology, uniform expression of markers of the undifferentiated state, trilineage differentiation potential and normal karyotypes. As CACNA1S-CMyo are ultra-rare disorders, these lines enable a better in vitro characterization of CACNA1S pathophysiology and can be used to test different treatment approaches.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"88 ","pages":"Article 103796"},"PeriodicalIF":0.7,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144911781","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}
{"title":"Establishment of an induced pluripotent stem cell line (LBMi001-A) from urine of an oligoteratozoospermic patient with isodicentric chromosome Y harboring intact AZF region","authors":"Jiabin Wu , Yong Ma , Xiao Zhang, Yanhong Lin, Jian Zeng","doi":"10.1016/j.scr.2025.103793","DOIUrl":"10.1016/j.scr.2025.103793","url":null,"abstract":"<div><div>Isodicentric Y chromosomes [idic(Y)] represent one of the most frequent Y chromosomal aberrations, leading to a wide phenotypic spectrum of abnormal sexual development. This study establishes the first urine-derived induced pluripotent stem cell (iPSC) line from an oligoteratozoospermic patient with isodicentric chromosome Y harboring intact AZF region using non-integrating Sendai virus. The iPSC line retained the isodicentric Y chromosome, expressed pluripotency markers, and displayed capability for differentiation of the three germ layers. This iPSC model holds considerable promise as a powerful tool for elucidating the molecular and cellular mechanisms underlying idic(Y)-associated male infertility.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103793"},"PeriodicalIF":0.7,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769091","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}
Chiara Pavan , Jennifer Jin , Sharon Jong , Gordon Qian , Dario Strbenac , Ryan L. Davis , Glenda M. Halliday , Deniz Kirik , Clare L. Parish , Lachlan H. Thompson , Carolyn M. Sue , Dmitry A. Ovchinnikov
{"title":"PARKIN protein-deficient iPSC line (FINi006-A) from an early-onset Parkinson’s disease female patient","authors":"Chiara Pavan , Jennifer Jin , Sharon Jong , Gordon Qian , Dario Strbenac , Ryan L. Davis , Glenda M. Halliday , Deniz Kirik , Clare L. Parish , Lachlan H. Thompson , Carolyn M. Sue , Dmitry A. Ovchinnikov","doi":"10.1016/j.scr.2025.103795","DOIUrl":"10.1016/j.scr.2025.103795","url":null,"abstract":"<div><div>Compound heterozygosity for strong hypomorphic mutations in the <em>PRKN</em> gene is a common cause of autosomal familial Parkinson’s disease (PD). We generated an iPSC cell line from the fibroblasts of a PARKIN protein-deficient early-onset PD female patient, carrying genomic deletions of exon 2 and exons 5–7. This line displays characteristic human iPSC morphology and expression of pluripotency-associated genes, and the ability to differentiate into derivatives of three embryonic germ layers, and has a normal karyotype without any SNP array-detectable copy number variations. We anticipate the value of this PARKIN-deficient iPSC line and its derivatives in illuminating the intracellular role of this protein, contributing to the development of PD<em>.</em></div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"87 ","pages":"Article 103795"},"PeriodicalIF":0.7,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144738695","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}