Pub Date : 2025-12-05DOI: 10.1016/j.scr.2025.103879
Min-Yu Lan , Sheng-Jye Lim , Huai-En Lu , Meng-Han Tsai
Spinocerebellar Ataxia Type 8 (SCA8) is a rare, dominantly inherited neurodegenerative disorder characterized by progressive ataxia and nystagmus, and dysarthria. SCA8 is caused by bidirectional CTG/CAG repeat expansion in the ATXN8OS and ATXN8 gene. Peripheral blood mononuclear cells obtained from a SCA8 patient were successfully transformed into induced pluripotent stem cells (iPSC) (KCGMHi003-A) using Sendai virus. Our approach provided a resource for future pathogenesis study and drug screening of SCA8.
{"title":"Generation of an induced pluripotent stem cell line (KCGMHi003-A) from a patient with spinocerebellar ataxia type 8 (SCA8)","authors":"Min-Yu Lan , Sheng-Jye Lim , Huai-En Lu , Meng-Han Tsai","doi":"10.1016/j.scr.2025.103879","DOIUrl":"10.1016/j.scr.2025.103879","url":null,"abstract":"<div><div>Spinocerebellar Ataxia Type 8 (SCA8) is a rare, dominantly inherited neurodegenerative disorder characterized by progressive ataxia and nystagmus, and dysarthria. SCA8 is caused by bidirectional CTG/CAG repeat expansion in the ATXN8OS and ATXN8 gene. Peripheral blood mononuclear cells obtained from a SCA8 patient were successfully transformed into induced pluripotent stem cells (iPSC) (KCGMHi003-A) using Sendai virus. Our approach provided a resource for future pathogenesis study and drug screening of SCA8.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103879"},"PeriodicalIF":0.7,"publicationDate":"2025-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145683629","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}
Pub Date : 2025-12-01DOI: 10.1016/j.scr.2025.103878
Dongli Yang , Jun Chen , Jerry H. Juratli , Andre Monteiro da Rocha , Allison Schley , Nadia R. Sutton
Advanced age is a significant risk factor for cardiovascular diseases. Previously, we reported two female human induced pluripotent stem cell (hiPSC) lines. Here, we report generation and characterization of two hiPSC lines from peripheral blood mononuclear cells (PBMCs) obtained from young (18-year-old) and older (80-year-old) male donors. The two male hiPSC lines express pluripotency markers, possess normal (46, XY) karyotypes, and have trilineage differentiation potential. Both lines genetically match their parental PBMCs. These lines provide a vital resource for regenerative medicine and development of human-specific models to understand aging-associated diseases and to investigate the epigenetic mechanisms that are involved.
{"title":"Generation and characterization of two human induced pluripotent stem cell lines from young and older male donors","authors":"Dongli Yang , Jun Chen , Jerry H. Juratli , Andre Monteiro da Rocha , Allison Schley , Nadia R. Sutton","doi":"10.1016/j.scr.2025.103878","DOIUrl":"10.1016/j.scr.2025.103878","url":null,"abstract":"<div><div>Advanced age is a significant risk factor for cardiovascular diseases. Previously, we reported two female human induced pluripotent stem cell (hiPSC) lines. Here, we report generation and characterization of two hiPSC lines from peripheral blood mononuclear cells (PBMCs) obtained from young (18-year-old) and older (80-year-old) male donors. The two male hiPSC lines express pluripotency markers, possess normal (46, XY) karyotypes, and have trilineage differentiation potential. Both lines genetically match their parental PBMCs. These lines provide a vital resource for regenerative medicine and development of human-specific models to understand aging-associated diseases and to investigate the epigenetic mechanisms that are involved.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103878"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145669920","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}
Pub Date : 2025-12-01DOI: 10.1016/j.scr.2025.103877
Thomas A. Bos , Elizaveta Polyakova , Marco C. DeRuiter , Emile Nühn , Monique R.M. Jongbloed
Cardiofaciocutaneous syndrome is a genetic disorder characterized by congenital heart disease, developmental delays and ectodermal abnormalities. Cardiofaciocutaneous syndrome is caused by pathogenic variants in the genes of the RAS/MAPK pathway, particularly BRAF. However, the mechanism by which congenital heart defects arise in RASopathy patients is still poorly understood. Therefore, using non-integrating episomal vectors, we generated three hiPSC clones from peripheral blood mononuclear cells from a 33-year old male carrying a c.1897 T > C missense variant in the BRAF gene, who was born with pulmonary stenosis, tricuspid atresia and hypoplastic right ventricle, consistent with a functional single ventricle.
{"title":"Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant","authors":"Thomas A. Bos , Elizaveta Polyakova , Marco C. DeRuiter , Emile Nühn , Monique R.M. Jongbloed","doi":"10.1016/j.scr.2025.103877","DOIUrl":"10.1016/j.scr.2025.103877","url":null,"abstract":"<div><div>Cardiofaciocutaneous syndrome is a genetic disorder characterized by congenital heart disease, developmental delays and ectodermal abnormalities. Cardiofaciocutaneous syndrome is caused by pathogenic variants in the genes of the RAS/MAPK pathway, particularly <em>BRAF</em>. However, the mechanism by which congenital heart defects arise in RASopathy patients is still poorly understood. Therefore, using non-integrating episomal vectors, we generated three hiPSC clones from peripheral blood mononuclear cells from a 33-year old male carrying a c.1897 T > C missense variant in the <em>BRAF</em> gene, who was born with pulmonary stenosis, tricuspid atresia and hypoplastic right ventricle, consistent with a functional single ventricle.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103877"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145683628","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}
Pub Date : 2025-12-01DOI: 10.1016/j.scr.2025.103881
Elisa Landi , Ruth Zondag , Jasmin A. Dehnen , Silvia Albert , Mor M. Dickman , Vanessa L.S. LaPointe , Hans van Bokhoven
An expanded CTG repeat in intron 2 of the transcription factor 4 (TCF4) gene is the main cause of Fuchs endothelial corneal dystrophy (FECD), a complex corneal disease. The prevailing paradigm is that the expanded repeat exerts toxic effects, resulting in corneal endothelium degeneration. Here we explored the use of CRISPR/Cas9-mediated, non-homologous end-joining (NHEJ) for disease-modeling purposes, by performing a biallelic excision of the CTG18.1 expansion in two FECD- and one control-derived induced pluripotent stem cell lines (iPSCs). The three Δ/Δ CTG18.1 lines generated by this study provide a platform to investigate the CTG18.1 contribution to FECD pathogenesis.
{"title":"Biallelic excision of the CTG18.1 expansion in two Fuchs endothelial corneal dystrophy-derived iPSC lines and one control (SCTCi046-A-1, SCTCi047-A-1 and SCTCi041-A-1) using an episomal vector-based CRISPR/Cas9 approach","authors":"Elisa Landi , Ruth Zondag , Jasmin A. Dehnen , Silvia Albert , Mor M. Dickman , Vanessa L.S. LaPointe , Hans van Bokhoven","doi":"10.1016/j.scr.2025.103881","DOIUrl":"10.1016/j.scr.2025.103881","url":null,"abstract":"<div><div>An expanded CTG repeat in intron 2 of the transcription factor 4 (<em>TCF4</em>) gene is the main cause of Fuchs endothelial corneal dystrophy (FECD), a complex corneal disease. The prevailing paradigm is that the expanded repeat exerts toxic effects, resulting in corneal endothelium degeneration. Here we explored the use of CRISPR/Cas9-mediated, non-homologous end-joining (NHEJ) for disease-modeling purposes, by performing a biallelic excision of the CTG18.1 expansion in two FECD- and one control-derived induced pluripotent stem cell lines (iPSCs). The three Δ/Δ CTG18.1 lines generated by this study provide a platform to investigate the CTG18.1 contribution to FECD pathogenesis.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103881"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145678769","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}
Pub Date : 2025-12-01DOI: 10.1016/j.scr.2025.103855
Polly Downton , Nicola Bates , Steven Woods , Antony Adamson , Panagiotis I. Sergouniotis
TYR encodes tyrosinase, the enzyme catalysing the initial steps of melanin biosynthesis in melanocytes and retinal pigment epithelia (RPE). TYR c.1205G>A (p.Arg402Gln) is a common genetic variant associated with several pigmentation traits. Notably, when this variant is encountered in specific haplotypic backgrounds in the homozygous state, it predisposes to albinism. We generated an induced pluripotent stem cell (iPSC) line from an affected individual carrying such a homozygous genotype (UMANi255-A), and then used CRISPR-Cas9 to correct the TYR c.1205G>A variant (UMANi255-A-1). The resulting iPSC lines demonstrate capacity for multi-lineage differentiation, providing a useful in vitro model for studying pigmentation biology.
{"title":"Genome editing of a low-penetrance albinism-associated variant in TYR in patient-derived pluripotent stem cells","authors":"Polly Downton , Nicola Bates , Steven Woods , Antony Adamson , Panagiotis I. Sergouniotis","doi":"10.1016/j.scr.2025.103855","DOIUrl":"10.1016/j.scr.2025.103855","url":null,"abstract":"<div><div><em>TYR</em> encodes tyrosinase, the enzyme catalysing the initial steps of melanin biosynthesis in melanocytes and retinal pigment epithelia (RPE). <em>TYR</em> c.1205G>A (p.Arg402Gln) is a common genetic variant associated with several pigmentation traits. Notably, when this variant is encountered in specific haplotypic backgrounds in the homozygous state, it predisposes to albinism. We generated an induced pluripotent stem cell (iPSC) line from an affected individual carrying such a homozygous genotype (UMANi255-A), and then used CRISPR-Cas9 to correct the <em>TYR</em> c.1205G>A variant (UMANi255-A-1). The resulting iPSC lines demonstrate capacity for multi-lineage differentiation, providing a useful in vitro model for studying pigmentation biology.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103855"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145620254","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}
Pub Date : 2025-12-01DOI: 10.1016/j.scr.2025.103875
Bert Vandendriessche , Jolien Schippers , Laura Rabaut , Peter Ponsaerts , Bart Loeys , Dorien Schepers , Maaike Alaerts
Up to 40 % of genetic variants identified in inherited arrhythmia syndromes (IAS) are classified as variants of uncertain significance (VUS) due to limited clinical and functional evidence. In Brugada syndrome (BrS), this challenge is further compounded by its polygenic nature, variable expressivity, and incomplete penetrance. Functional characterization in relevant disease models, such as human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs), is essential for VUS reclassification. Here, using conventional CRISPR/Cas9, we established two isogenic hiPSC lines harboring the BrS-associated CACNA1C c.989C > T (p.Thr330Met) variant in homozygous and heterozygous configurations to enable future functional assessment.
由于有限的临床和功能证据，在遗传性心律失常综合征（IAS）中发现的多达40%的遗传变异被归类为不确定意义变异（VUS）。在Brugada综合征（BrS）中，由于其多基因性、可变表达性和不完全外显性，这一挑战进一步复杂化。相关疾病模型的功能表征，如人类诱导多能干细胞衍生的心肌细胞（hiPSC-CMs），对VUS重新分类至关重要。在这里，我们使用传统的CRISPR/Cas9，建立了两个等基因的hiPSC系，其中包含brs相关的CACNA1C c.989C > T （p.s thr330met）纯合子和杂合子配置，以便进行未来的功能评估。
{"title":"Generation of a homozygous and heterozygous iPSC line carrying a variant of uncertain significance in CACNA1C, associated with Brugada syndrome","authors":"Bert Vandendriessche , Jolien Schippers , Laura Rabaut , Peter Ponsaerts , Bart Loeys , Dorien Schepers , Maaike Alaerts","doi":"10.1016/j.scr.2025.103875","DOIUrl":"10.1016/j.scr.2025.103875","url":null,"abstract":"<div><div>Up to 40 % of genetic variants identified in inherited arrhythmia syndromes (IAS) are classified as variants of uncertain significance (VUS) due to limited clinical and functional evidence. In Brugada syndrome (BrS), this challenge is further compounded by its polygenic nature, variable expressivity, and incomplete penetrance. Functional characterization in relevant disease models, such as human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs), is essential for VUS reclassification. Here, using conventional CRISPR/Cas9, we established two isogenic hiPSC lines harboring the BrS-associated <em>CACNA1C</em> c.989C > T (p.Thr330Met) variant in homozygous and heterozygous configurations to enable future functional assessment.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103875"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145620255","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}
Pub Date : 2025-12-01DOI: 10.1016/j.scr.2025.103873
Lisa Zerad , Blaise Didry-Barca , Céline Banal , Brigitte Onteniente , Nathalie Lefort , Alice Lepelley , Luis Seabra , Marie Hully , Christiane Zweier , Nadège Bondurand , Yanick J. Crow , Marie-Louise Frémond
Mutations in ADAR1 (Adenosine deaminase acting on RNA 1) and IFIH1 (Interferon Induced With Helicase C Domain 1) are associated with Aicardi-Goutières syndrome (AGS), a genetically determined inflammatory disorder particularly affecting the brain and skin. Here, we generated induced pluripotent stem cells (iPSCs) from one patient carrying compound heterozygous loss-of-function mutations in ADAR1 (PC138/AGS0788.1: c.577C > G p.(Pro193Ala) and c.1386_1390del p.(Asp462Glufs*2)), and one individual carrying a heterozygous gain-of-function mutation in IFIH1 (PC139/AGS2177.1: c.2336G > A p.(Arg779His)). Cells from these patients were reprogrammed by episomal transfection, had normal karyotype, expressed pluripotency markers and were able to differentiate into the three germ cell layers.
ADAR1（作用于RNA 1的腺苷脱氨酶）和IFIH1（解旋酶C结构域1干扰素诱导）的突变与aicardii - gouti综合征（AGS）有关，AGS是一种遗传决定的炎症性疾病，特别影响大脑和皮肤。在这里，我们从一名携带ADAR1复合杂合功能丧失突变（PC138/AGS0788.1: c.577C > G p.（Pro193Ala）和c.1386_1390del p.(Asp462Glufs*2)）的患者和一名携带IFIH1杂合功能获得突变（PC139/AGS2177.1: c.2336G > a p.(Arg779His)）的患者中获得了诱导多能干细胞（iPSCs）。这些患者的细胞通过外泌体转染重新编程，具有正常的核型，表达多能性标记，并能够分化为三个生殖细胞层。
{"title":"Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139)","authors":"Lisa Zerad , Blaise Didry-Barca , Céline Banal , Brigitte Onteniente , Nathalie Lefort , Alice Lepelley , Luis Seabra , Marie Hully , Christiane Zweier , Nadège Bondurand , Yanick J. Crow , Marie-Louise Frémond","doi":"10.1016/j.scr.2025.103873","DOIUrl":"10.1016/j.scr.2025.103873","url":null,"abstract":"<div><div>Mutations in <em>ADAR1</em> (Adenosine deaminase acting on RNA 1) and <em>IFIH1</em> (Interferon Induced With Helicase C Domain 1) are associated with Aicardi-Goutières syndrome (AGS), a genetically determined inflammatory disorder particularly affecting the brain and skin. Here, we generated induced pluripotent stem cells (iPSCs) from one patient carrying compound heterozygous loss-of-function mutations in <em>ADAR1</em> (PC138/AGS0788.1: c.577C > G p.(Pro193Ala) and c.1386_1390del p.(Asp462Glufs*2)), and one individual carrying a heterozygous gain-of-function mutation in <em>IFIH1</em> (PC139/AGS2177.1: c.2336G > A p.(Arg779His)). Cells from these patients were reprogrammed by episomal transfection, had normal karyotype, expressed pluripotency markers and were able to differentiate into the three germ cell layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103873"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145690701","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}
Pub Date : 2025-12-01DOI: 10.1016/j.scr.2025.103872
Bria L. Macklin , Wendy V. Runyon , Carissa M. Feliciano , Philip H. Dierks , Kaitlin R. Kelly , Hannah L. Watry , Luke M. Judge , Bruce R. Conklin
The establishment of well characterized control iPSC lines is essential for robust, reproducible research across laboratories. We used CRISPR/Cas9 to derive an isogeneic control line from a patient-derived iPSC line carrying a mutation in the NEFL gene (E396K). After correction of the E396K mutation, UCSFi003-A (WTD) exhibits multi-lineage differentiation potential, a normal karyotype, no large genomic abnormalities, and has consents for public distribution of cells and genomic data.
{"title":"Generation of WTD, a control human iPSC line for genetic research","authors":"Bria L. Macklin , Wendy V. Runyon , Carissa M. Feliciano , Philip H. Dierks , Kaitlin R. Kelly , Hannah L. Watry , Luke M. Judge , Bruce R. Conklin","doi":"10.1016/j.scr.2025.103872","DOIUrl":"10.1016/j.scr.2025.103872","url":null,"abstract":"<div><div>The establishment of well characterized control iPSC lines is essential for robust, reproducible research across laboratories. We used CRISPR/Cas9 to derive an isogeneic control line from a patient-derived iPSC line carrying a mutation in the NEFL gene (<em>E396K</em>). After correction of the E396K mutation, UCSFi003-A (WTD) exhibits multi-lineage differentiation potential, a normal karyotype, no large genomic abnormalities, and has consents for public distribution of cells and genomic data.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"89 ","pages":"Article 103872"},"PeriodicalIF":0.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145662187","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}
Pub Date : 2025-11-29DOI: 10.1016/j.scr.2025.103880
Xiaoyi Tian , Xiaoying Zhang , Chuqing Zhou , Youhui Jiang , Xinyi Ren , Tao Li , Peiyan Ni
This study reports the successful establishment of induced pluripotent stem cells (iPSCs) derived from a pediatric patient with Fragile X Syndrome (FXS), representing a valuable cellular model for studying the most prevalent hereditary form of intellectual disability. Blood samples were collected from an 8-year-old Han Chinese male presenting with intellectual disability and carrying a full FMR1 gene mutation (>200 CGG repeat expansion). A stable iPSC line designated HZSMHCi003-A was generated using episomal vector-mediated reprogramming with seven transcription factors (OCT4, SOX2, NANOG, LIN28, c-MYC, KLF4, and SV40LT). Comprehensive characterization confirmed normal chromosomal integrity, robust expression of pluripotency-associated markers, and tri-lineage differentiation potential as evidenced by teratoma formation assays. This FXS patient-derived iPSC line provides a unique platform for investigating neurodevelopmental pathophysiology and screening potential therapeutic interventions for intellectual disability associated with FMR1 dysfunction.
{"title":"Generation and characterization of a human-derived iPSC line (HZSMHCi003-A) from a male child with fragile X syndrome","authors":"Xiaoyi Tian , Xiaoying Zhang , Chuqing Zhou , Youhui Jiang , Xinyi Ren , Tao Li , Peiyan Ni","doi":"10.1016/j.scr.2025.103880","DOIUrl":"10.1016/j.scr.2025.103880","url":null,"abstract":"<div><div>This study reports the successful establishment of induced pluripotent stem cells (iPSCs) derived from a pediatric patient with Fragile X Syndrome (FXS), representing a valuable cellular model for studying the most prevalent hereditary form of intellectual disability. Blood samples were collected from an 8-year-old Han Chinese male presenting with intellectual disability and carrying a full FMR1 gene mutation (>200 CGG repeat expansion). A stable iPSC line designated HZSMHCi003-A was generated using episomal vector-mediated reprogramming with seven transcription factors (OCT4, SOX2, NANOG, LIN28, c-MYC, KLF4, and SV40LT). Comprehensive characterization confirmed normal chromosomal integrity, robust expression of pluripotency-associated markers, and tri-lineage differentiation potential as evidenced by teratoma formation assays. This FXS patient-derived iPSC line provides a unique platform for investigating neurodevelopmental pathophysiology and screening potential therapeutic interventions for intellectual disability associated with FMR1 dysfunction.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103880"},"PeriodicalIF":0.7,"publicationDate":"2025-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738587","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}
CHARGE syndrome is a multisystem neurodevelopmental disorder characterized by coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities. The CHD7 gene is the causal gene. A human iPSC line harboring a de novo heterozygous CHD7 mutation (c.3982C>T) was generated from peripheral blood mononuclear cells of a patient with CHARGE syndrome. This iPSC line exhibited typical human embryonic stem cell-like morphology, pluripotent markers, normal karyotype, and could differentiate into the three germ layers. This iPSC line is valuable for studying disease mechanisms and conducting drug screening in patient with CHARGE syndrome.
{"title":"Generation of a human induced pluripotent stem cell line from a CHARGE syndrome patient with CHD7 mutation (c.3982C>T)","authors":"Yunqian Zhu , Peng Zhang , Meiling Zhang , Yuan Xu , Wenhao Zhou , Guoqiang Cheng , Man Xiong","doi":"10.1016/j.scr.2025.103876","DOIUrl":"10.1016/j.scr.2025.103876","url":null,"abstract":"<div><div>CHARGE syndrome is a multisystem neurodevelopmental disorder characterized by coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities. The <em>CHD7</em> gene is the causal gene. A human iPSC line harboring a <em>de novo</em> heterozygous <em>CHD7</em> mutation (c.3982C>T) was generated from peripheral blood mononuclear cells of a patient with CHARGE syndrome. This iPSC line exhibited typical human embryonic stem cell-like morphology, pluripotent markers, normal karyotype, and could differentiate into the three germ layers. This iPSC line is valuable for studying disease mechanisms and conducting drug screening in patient with CHARGE syndrome.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"90 ","pages":"Article 103876"},"PeriodicalIF":0.7,"publicationDate":"2025-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145658701","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}
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