Katarzyna A. Ludwik , Robert Opitz , Sabine Jyrch , Matthias Megges , Peter Kühnen , Harald Stachelscheid
{"title":"Correction of the Allan-Herndon-Dudley syndrome-causing SLC16A2 mutation G401R in a patient derived hiPSC line","authors":"Katarzyna A. Ludwik , Robert Opitz , Sabine Jyrch , Matthias Megges , Peter Kühnen , Harald Stachelscheid","doi":"10.1016/j.scr.2025.103698","DOIUrl":"10.1016/j.scr.2025.103698","url":null,"abstract":"<div><div>The X-linked Allan-Herndon-Dudley syndrome (AHDS) is a genetic disorder characterized by severe psychomotor impairment, resulting from mutations in the <em>SLC16A2</em> gene, which encodes the thyroid hormone transporter MCT8 (monocarboxylate transporter 8). Previously, we established a hiPSC line from a patient carrying the <em>SLC16A2</em>:R401G mutation (BIHi045-A). Using CRISPR/Cas9-mediated gene editing, we targeted exon 3 of <em>SLC16A2</em> and used single-stranded oligodeoxynucleotides as homology-directed repair templates to correct the R401G missense mutation, generating an isogenic control cell line.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103698"},"PeriodicalIF":0.8,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143679854","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}
Youhui Jiang , Chuqing Zhou , Jun Zhao , Xinyi Ren , Qiang Wang , Peiyan Ni , Tao Li
{"title":"Derivation of human-derived iPSC line from a male adolescent with first-episode of sporadic schizophrenia","authors":"Youhui Jiang , Chuqing Zhou , Jun Zhao , Xinyi Ren , Qiang Wang , Peiyan Ni , Tao Li","doi":"10.1016/j.scr.2025.103694","DOIUrl":"10.1016/j.scr.2025.103694","url":null,"abstract":"<div><div>Schizophrenia is considered to be a neurodevelopmental disorder with high heritability. In this study, peripheral blood mononuclear cells (PBMCs) were collected from a male adolescent diagnosed with first-episode of sporadic schizophrenia. Induced pluripotent stem cells (iPSCs) were generated by reprogramming using the factors <em>OCT4</em>, <em>SOX2</em>, <em>NANOG</em>, <em>LIN28</em>, <em>c-MYC</em>, <em>KLF4</em>, and <em>SV40LT</em>. The generated iPSC line was validated by karyotype analysis and expression of pluripotency markers. These iPSCs were capable of differentiating into derivatives of all three germ layers <em>in vivo</em>.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103694"},"PeriodicalIF":0.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143610789","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}
Marta Białobrzeska , Jacek Stępniewski , Alicja Martyniak , Andrzej Szuba , Józef Dulak
{"title":"Generation of human induced pluripotent stem cell line from peripheral blood of patient with lymphedema-distichiasis syndrome","authors":"Marta Białobrzeska , Jacek Stępniewski , Alicja Martyniak , Andrzej Szuba , Józef Dulak","doi":"10.1016/j.scr.2025.103693","DOIUrl":"10.1016/j.scr.2025.103693","url":null,"abstract":"<div><div>Lymphedema-distichiasis syndrome (LDS) is an autosomal dominant genetic disorder associated with mutations in forkhead box C2 (<em>FOXC2</em>) gene, critical for lymphatic endothelial cell (LEC) differentiation. LDS patients suffer from swelling of limbs (lymphedema) due to excessive lymph accumulation and are characterized by the presence of additional row of eyelashes (distichiasis). Here, we generated human induced pluripotent stem cells (hiPSCs) from LDS patient-derived peripheral blood mononuclear cells (PBMCs). LDS hiPSC line allows <em>in vitro</em> modeling and investigation of the molecular mechanisms of LDS upon differentiation towards LEC.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"85 ","pages":"Article 103693"},"PeriodicalIF":0.8,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143594162","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}
Devyn Mitchell , Rizwan Ullah , Loren Vanags , Alex Shen , Luke Jones , William Morris , Matthew J. O’Neill , Giovanni Davogustto , Christian Shaffer , Dan Roden , Ben Shoemaker , Hollie Williams , Teresa Strickland , Taylor Agee , Christopher Johnson , Brett Kroncke
{"title":"Generation of human induced pluripotent stem cell (hiPSC) lines from patients with extreme high and low polygenic scores for QT interval","authors":"Devyn Mitchell , Rizwan Ullah , Loren Vanags , Alex Shen , Luke Jones , William Morris , Matthew J. O’Neill , Giovanni Davogustto , Christian Shaffer , Dan Roden , Ben Shoemaker , Hollie Williams , Teresa Strickland , Taylor Agee , Christopher Johnson , Brett Kroncke","doi":"10.1016/j.scr.2025.103691","DOIUrl":"10.1016/j.scr.2025.103691","url":null,"abstract":"<div><div>Long QT syndrome (LQTS), an inherited cardiac arrhythmia syndrome with congenital and drug-induced presentations and known monogenic and polygenic contributions, represents a significant clinical challenge due to its complex genetic underpinning and propensity for fatal arrhythmias. In this study, we generated induced pluripotent stem cells (iPSCs) reprogrammed from peripheral blood mononuclear cells (PBMCs) of six patients with extreme polygenic scores for short and long corrected QT intervals. This patient-specific approach will enable us to better understand variable expressivity and penetrance of LQTS, using rigorously validated iPSC lines serve as a vital resource for elucidating the molecular mechanisms underlying LQTS.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103691"},"PeriodicalIF":0.8,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143534341","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}
{"title":"Human induced pluripotent stem cell line (PNUSCRi006-A) derived from a patient with Sanfilippo syndrome type A exhibiting a mutation in SGSH gene","authors":"Nayeon Lee , Haneul Noh , Chong Kun Cheon","doi":"10.1016/j.scr.2025.103690","DOIUrl":"10.1016/j.scr.2025.103690","url":null,"abstract":"<div><div>Mucopolysaccharidosis Type IIIA (MPS IIIA), known as Sanfilippo syndrome type A, is a rare autosomal recessive lysosomal storage disorder caused by the mutations in the N-sulfoglucosamine Sulfohydrolase (SGSH) gene, encoding the enzyme heparan N-sulfatase (HNS). We obtained peripheral blood mononuclear cells (PBMCs) from a patient diagnosed with Sanfilippo syndrome carrying the mutation c.[706G>A(p.Asp235Asn)];c.[449G>A (p.Arg150Gln)] in the SGSH gene. We successfully generated an induced pluripotent stem cell (iPSC) line from isolated patient PBMCs using a non-integrative Sendai virus method. The hiPSCs displayed characteristics of embryonic stem cells, showed the ability to differentiate into three germ layers, and presented a normal karyotype.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103690"},"PeriodicalIF":0.8,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143510287","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}
Hang Chen , Yuqin Liang , Yuexi Chen , Yuan Liang , Xiaoxue Li , Chunwen Duan , Zekai Cui , Jianing Gu , Chengcheng Ding , Xihao Sun , Jiansu Chen
{"title":"Generation of a human iPSC line with heterozygous PRPF8 c.5792C > T, p. T1931M mutation to model retinitis pigmentosa using CRISPR/Cas9 technology","authors":"Hang Chen , Yuqin Liang , Yuexi Chen , Yuan Liang , Xiaoxue Li , Chunwen Duan , Zekai Cui , Jianing Gu , Chengcheng Ding , Xihao Sun , Jiansu Chen","doi":"10.1016/j.scr.2025.103689","DOIUrl":"10.1016/j.scr.2025.103689","url":null,"abstract":"<div><div>Mutations in the PRPF8 gene frequently result in retinitis pigmentosa (RP), an autosomal dominant inherited retinal disease that can lead to nyctalopia and progressive vision loss. Currently, no effective treatment is available. In this study, we used CRISPR/Cas9 technology to introduce a heterozygous point mutation in<!--> <!-->the PRPF8 gene of a normal induced pluripotent stem cell (iPSC) line. This mutation mirrors that found in a previously reported<!--> <!-->RP patient-derived iPSC line (CSUASOi006-A) from our group. Establishing the PRPF8 gene mutation cell line (CSUASOi012-A-2) provides a valuable cellular resource for studying the pathogenesis of RP.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103689"},"PeriodicalIF":0.8,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143510288","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}
Yiqing Wang , Minghao Yu , Zhihong Liu , Gang Wang
{"title":"Generation of an induced pluripotent stem cell line (NCKDi006-A) from a 34-year-old patient with focal segmental glomerulosclerosis carrying a heterozygous mutation in the TRPC6 gene","authors":"Yiqing Wang , Minghao Yu , Zhihong Liu , Gang Wang","doi":"10.1016/j.scr.2025.103687","DOIUrl":"10.1016/j.scr.2025.103687","url":null,"abstract":"<div><div>Focal segmental glomerulosclerosis (FSGS) is a common pathological nephrotic syndrome. The ion channel protein TRPC6 is associated mainly with the late-onset form of autosomal dominant familial FSGS. We identified a heterozygous mutation in the TRPC6 gene in an FSGS patient with a family history of end-stage renal disease (ESRD). Peripheral blood mononuclear cells (PBMCs) were obtained from the patient, and induced pluripotent stem cell (iPSC) lines were successfully generated. The establishment of these iPSC lines will provide a basis for further research into the pathogenesis of this condition.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103687"},"PeriodicalIF":0.8,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143474093","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}
Bo Li , Yingxin Wang , Yitong Yang , Didi Shan , Jianing Li , Hongxu Wang , Xiaohan Sun , Zexin Zhan , Xinbo Ji , Yao Tang , Yichang Jiao , Bo Kong , Bo Gao , Ping Sun , Fuchen Liu , Yu Wang
{"title":"Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi008-A) from a patient with Spinocerebellar Ataxia Type 3","authors":"Bo Li , Yingxin Wang , Yitong Yang , Didi Shan , Jianing Li , Hongxu Wang , Xiaohan Sun , Zexin Zhan , Xinbo Ji , Yao Tang , Yichang Jiao , Bo Kong , Bo Gao , Ping Sun , Fuchen Liu , Yu Wang","doi":"10.1016/j.scr.2025.103675","DOIUrl":"10.1016/j.scr.2025.103675","url":null,"abstract":"<div><div>Abnormal trinucleotide CAG repeat expansions in exon 10 of the ataxin-3 (ATXN3) gene has been identified as the cause of Spinocerebellar Ataxia Type 3 (SCA3). We generated and characterized a human induced pluripotent stem cell (iPSC) line from skin fibroblasts of a patient with genetically confirmed SCA3. The pluripotency of these iPSCs was verified by the expression of several undifferentiated hPSCs markers at both RNA and protein levels, as well as their capability to differentiate into all three germ layers.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103675"},"PeriodicalIF":0.8,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143464894","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}
Hiroki Ura , Sumihito Togi , Hisayo Hatanaka , Yo Niida
{"title":"Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome","authors":"Hiroki Ura , Sumihito Togi , Hisayo Hatanaka , Yo Niida","doi":"10.1016/j.scr.2025.103688","DOIUrl":"10.1016/j.scr.2025.103688","url":null,"abstract":"<div><div>X-linked Ohdo syndrome is a heterogenous group of disorders characterized by intellectual disability and typical facial features including blepharophimosis. The X-linked Ohdo syndrome is caused by a loss-of-function mutation in the <em>MED12</em> gene on the X chromosome. The peripheral blood mononuclear cells from a patient carrying missense mutation in the <em>MED12</em> gene were reprogrammed using the CytoTune-iPS2.0 Sendai Reprogramming Kit. The <em>KMUGMCi009-A</em> cell line was derived from a brother of the <em>KMUGMCi010</em> patient carrying the same mutation. The missense mutation causes the abnormal protein variant. The established human induced pluripotent cell line will allow proper <em>in vitro</em> disease modelling of X-linked Ohdo syndrome.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103688"},"PeriodicalIF":0.8,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143464895","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}
{"title":"Generation of ARX-T2A-H2B-CFP x C-PEP-mCherry-hiPSC double reporter line for monitoring of pancreatic differentiation","authors":"Eunike Sawitning Ayu Setyono , Nicole Katarina Rogers , Anita Hofmann , Heiko Lickert , Ingo Burtscher","doi":"10.1016/j.scr.2025.103685","DOIUrl":"10.1016/j.scr.2025.103685","url":null,"abstract":"<div><div>Pancreatic islets consist of several different endocrine cell types that work in harmony. Aside from primary pancreatic islets, stem cell-derived pancreatic islets can be used as an alternative research and disease model. Here, we introduce a double reporter line of ARX-T2A-H2B-CFP x C-PEP-mCherry-hiPSC through CRISPR/Cas9-mediated insertion of mCherry in the C-terminus of C-Peptide in the previously published ARX-CFP hiPSC line. This reporter line allows live monitoring of stem cell-derived pancreatic alpha and beta cells throughout differentiation.</div></div>","PeriodicalId":21843,"journal":{"name":"Stem cell research","volume":"84 ","pages":"Article 103685"},"PeriodicalIF":0.8,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519537","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}