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https://www.readbyqxmd.com/read/29040913/generation-of-human-erythroblast-derived-ipsc-line-using-episomal-reprogramming-system
#1
Eszter Varga, Marten Hansen, Tatjana Wüst, Marieke von Lindern, Emile van den Akker
Peripheral blood mononuclear cells were isolated and cultured to a pure pro-EBL population and reprogrammed using episomal plasmids. The pluripotency of transgene-free induced pluripotent stem cell (iPSC) line was verified by the expression of pluripotency-associated markers and by in vitro spontaneous differentiation towards the 3 germ layers. The iPSC line showed normal karyotype. Peripheral blood is a non-invasive easy accessible cell source and combined with EBL outgrowth in vitro, a routine process obtaining sufficient amount of homogenous cells can be obtained within a week...
October 12, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29036611/progranulin-mediated-deficiency-of-cathepsin-d-results-in-ftd-and-ncl-like-phenotypes-in-neurons-derived-from-ftd-patients
#2
Clarissa Valdez, Yvette C Wong, Michael Schwake, Guojun Bu, Zbigniew K Wszolek, Dimitri Krainc
Frontotemporal dementia (FTD) encompasses a group of neurodegenerative disorders characterized by cognitive and behavioral impairments. Heterozygous mutations in progranulin (PGRN) cause familial FTD and result in decreased PGRN expression, while homozygous mutations result in complete loss of PGRN expression and lead to the neurodegenerative lysosomal storage disorder neuronal ceroid lipofuscinosis (NCL). However, how dose-dependent PGRN mutations contribute to these two different diseases is not well understood...
September 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29035843/generation-of-a-human-control-pbmc-derived-ips-cell-line-tusmi001-a-from-a-healthy-male-donor-of-han-chinese-genetic-background
#3
Ying Wang, Yue Zhang, Jing Zhang, Jing Lu, Chaowen Yang, Jian Zhao, Gang Li, Zhongmin Liu, Ying Lei
A 59-year old healthy man of Han Chinese genetic background donated his peripheral blood mononuclear cells (PBMC). The non-integrating episomal vector system was used to reprogram his PBMCs with the human OSKM (Oct4, Sox2, Kl4 and c-Myc) transcription factors. The pluripotency of transgene-free iPSCs was confirmed by immunocytochemistry for pluripotency markers and by the ability of the iPSCs to differentiate spontaneously into 3 germ layers in vitro. In addition, the iPSC line displayed a normal karyotype...
October 6, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29035842/derivation-and-characterization-of-integration-free-ipsc-line-isrm-um51-derived-from-six2-positive-renal-cells-isolated-from-urine-of-an-african-male-expressing-the-cyp2d6-4-17-variant-which-confers-intermediate-drug-metabolizing-activity
#4
Martina Bohndorf, Audrey Ncube, Lucas-Sebastian Spitzhorn, Jürgen Enczmann, Wasco Wruck, James Adjaye
SIX2-positive renal cells isolated from urine from a 51year old male of African origin bearing the CYP2D6 *4/*17 variant were reprogrammed by nucleofection of a combination of two episomal-based plasmids omitting pathway (TGFβ, MEK and GSK3β) inhibition. The induced pluripotent stem cells (iPSCs) were characterized by immunocytochemistry, embryoid body formation, DNA-fingerprinting and karyotype analysis. Comparative transcriptome analyses with human embryonic stem cell lines H1 and H9 revealed a Pearson correlation of 0...
October 7, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034900/generation-of-ipsc-line-from-patient-with-arrhythmogenic-right-ventricular-cardiomyopathy-carrying-mutations-in-pkp2-gene
#5
Aleksandr Khudiakov, Daria Kostina, Anna Zlotina, Natalia Yany, Alexey Sergushichev, Tatiana Pervunina, Alexey Tomilin, Anna Kostareva, Anna Malashicheva
Human iPSC line was generated from patient-specific adipose tissue-derived mesenchymal multipotent stromal cells carrying two mutations in plakophilin-2 (PKP2) gene using non-integrative reprogramming method. Reprogramming factors OCT4, KLF4, SOX2, CMYC were delivered using Sendai viruses. Pluripotency was confirmed in vitro using immunofluorescence and RT-PCR analysis and in vivo by teratoma assay. The reported iPSC line could be useful tool for in vitro modeling of arrhythmogenic right ventricular cardiomyopathy...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034899/establishment-of-a-human-doa-plus-ipsc-line-iishdoi003-a-with-the-mutation-in-the-opa1-gene-c-1635c-a-p-ser545arg
#6
Francisco Zurita-Díaz, Teresa Galera-Monge, Ana Moreno-Izquierdo, Marta Corton, Carmen Ayuso, Rafael Garesse, M Esther Gallardo
We have generated a human iPSC line IISHDOi003-A from fibroblasts of a patient with a dominant optic atrophy 'plus' phenotype, harbouring a heterozygous mutation, c.1635C>A; p.Ser545Arg, in the OPA1 gene. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using Sendai virus.
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034898/generation-of-induced-pluripotent-stem-cells-ipsc-from-an-atrial-fibrillation-patient-carrying-a-pitx2-p-m200v-mutation
#7
Cristina Mora, Marialaura Serzanti, Alessio Giacomelli, Silvia Beltramone, Eleonora Marchina, Valeria Bertini, Giovanna Piovani, Lena Refsgaard, Morten Salling Olesen, Venusia Cortellini, Patrizia Dell'Era
Atrial fibrillation (AF) is the most common sustained arrhythmia associated with several cardiac risk factors, but increasing evidences indicated a genetic component. Indeed, genetic variations of the specific PITX2 gene have been identified in patients with early-onset AF. To investigate the molecular mechanisms underlying AF, we reprogrammed to pluripotency polymorphonucleated leukocytes isolated from the blood of a patient carrying a PITX2 p.M200V mutation, using a commercially available non-integrating expression system...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034897/generation-of-ipsc-line-from-desmin-related-cardiomyopathy-patient-carrying-splice-site-mutation-of-des-gene
#8
Aleksandr Khudiakov, Daria Kostina, Anna Zlotina, Tatiana Nikulina, Alexey Sergushichev, Alexandra Gudkova, Alexey Tomilin, Anna Malashicheva, Anna Kostareva
Human iPSC line was generated from patient-specific adipose tissue-derived mesenchymal multipotent stromal cells carrying desmin (DES) gene heterozygous splice site mutation using non-integrative reprogramming method. Reprogramming factors OCT4, KLF4, SOX2, CMYC were delivered using Sendai viruses. iPSCs were characterized by sequencing, karyotype analysis, STR analysis, immunocytochemistry, RT-PCR and teratoma formation.
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034896/generation-of-induced-pluripotent-stem-cells-aro-ipsc1-11-from-a-patient-with-autosomal-recessive-osteopetrosis-harboring-the-c-212-1g-t-mutation-in-snx10-gene
#9
Maojia Xu, Eva-Lena Stattin, Mary Murphy, Frank Barry
Pathogenic sequence variants in the Sorting Nexin 10 (SNX10) gene have been associated with autosomal recessive osteopetrosis (ARO) in human. In this study, an induced pluripotent stem cell (iPSC) line (ARO-iPSC1-11) was generated from an ARO patient carrying the homozygous c.212+1G>T mutation in SNX10, using a retroviral-based reprogramming protocol. Characterization confirmed that the generated iPSCs expressed pluripotency markers, displayed normal karyotype, showed pluripotent differentiation capacity and retained the targeted mutation...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034895/generation-of-induced-pluripotent-stem-cell-ipsc-line-from-charcot-marie-tooth-disease-patient-with-mpz-mutation-cmt1b
#10
Daryeon Son, Phil Jun Kang, Wonjin Yun, Seungkwon You
Charcot-Marie-Tooth disease (CMT1B) is an inherited neurological disorder caused by mutation of the myelin protein zero (MPZ) gene. We generated an induced pluripotent stem cell (iPSC) line from an 81-year-old patient with CMT1B by electroporating of lymphoblastoid cell lines with episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, and p53-targeting shRNA. The established iPSCs expressed various pluripotency markers, demonstrated the potential to differentiate into cells of the three germ layers in vitro, had a normal karyotype and retained the MPZ mutation...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034894/induced-pluripotent-stem-cells-derived-from-a-patient-with-familial-idiopathic-basal-ganglia-calcification-ibgc-caused-by-a-mutation-in-slc20a2-gene
#11
Shin-Ichiro Sekine, Takayuki Kondo, Nagahisa Murakami, Keiko Imamura, Takako Enami, Ran Shibukawa, Kayoko Tsukita, Misato Funayama, Masatoshi Inden, Hisaka Kurita, Isao Hozumi, Haruhisa Inoue
Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease or primary familial brain calcifications (PFBC), is a rare neurodegenerative disorder characterized by calcium deposits in basal ganglia and other brain regions, causing neuropsychiatric and motor symptoms. We established human induced pluripotent stem cells (iPSCs) from an IBGC patient. The established IBGC-iPSCs carried SLC20A2 c.1848G>A mutation (p.W616* of translated protein PiT2), and also showed typical iPSC morphology, pluripotency markers, normal karyotype, and the ability of in vitro differentiation into three-germ layers...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034893/establishment-of-dyt5-patient-specific-induced-pluripotent-stem-cells-with-a-gch1-mutation
#12
Nagahisa Murakami, Taizo Ishikawa, Takayuki Kondo, Keiko Imamura, Kayoko Tsukita, Takako Enami, Misato Funayama, Ran Shibukawa, Shinichi Matsumoto, Yuishin Izumi, Etsuro Ohta, Fumiya Obata, Ryuji Kaji, Haruhisa Inoue
Peripheral blood mononuclear cells (PBMCs) were collected from a clinically diagnosed 20-year-old dystonia patient with a GCH1 mutation (DYT5). Episomal vectors were used to introduce reprogramming factors (OCT3/4, SOX2, KLF4, L-MYC, LIN28, and p53 carboxy-terminal dominant-negative fragment) to the PBMCs. The generated iPSCs expressed pluripotency markers, and were capable of differentiating into derivates of all three germ layers in vitro. The iPSC line also showed a normal karyotype and preserved the GCH1 mutation...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034892/generation-of-a-human-induced-pluripotent-stem-cell-line-from-a-65-year-old-healthy-female-donor-with-chinese-han-genetic-background
#13
Ying Wang, Jing Zhang, Yue Zhang, Danyi Huang, Jian Zhao, Gang Li, Ying Lei
Peripheral blood mononuclear cells (PBMC) were collected from a 65-year old healthy woman with Chinese Han genetic background. The PBMCs were reprogrammed with the human OKSM transcription factors using the non-integrating episomal vector system. The transgene-free iPSC showed pluripotency verified by immunocytochemistry for pluripotency markers and differentiated spontaneously toward the 3 germ layers in vitro. Furthermore, the iPSC line showed normal karyotype. The iPSC line can be used as control in disease mechanism studies...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034891/generation-of-induced-pluripotent-stem-cells-ipsc-from-an-atrial-fibrillation-patient-carrying-a-kcna5-p-d322h-mutation
#14
Cristina Mora, Marialaura Serzanti, Alessio Giacomelli, Valentina Turco, Eleonora Marchina, Valeria Bertini, Giovanna Piovani, Giulia Savio, Lena Refsgaard, Morten Salling Olesen, Venusia Cortellini, Patrizia Dell'Era
Atrial fibrillation (AF) is the most common sustained arrhythmia associated with several cardiac risk factors, but increasing evidences indicated a genetic component. Indeed, genetic variations of the atrial specific KCNA5 gene have been identified in patients with early-onset lone AF. To investigate the molecular mechanisms underlying AF, we reprogrammed to pluripotency polymorphonucleated leukocytes isolated from the blood of a patient carrying a KCNA5 p.D322H mutation, using a commercially available non-integrating system...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034890/derivation-of-a-disease-specific-human-induced-pluripotent-stem-cell-line-from-a-biliary-atresia-patient
#15
Lipeng Tian, Lindsey Eldridge, Pooja Chaudhari, Linyi Zhang, Robert A Anders, Kathleen B Schwarz, Zhaohui Ye, Yoon-Young Jang
Biliary atresia (BA) is a common cause of pediatric end-stage liver disease. While its etiology is not yet clear, evidence has suggested that BA results from interactions between genetic susceptibility and environmental factors. Disease relevant human cellular models of BA will facilitate identification of both genetic and environmental factors that are important for disease prevention and treatment. Here we report the generation of a human induced pluripotent stem cell line from a BA patient using episomal vectors...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034889/generation-of-a-pig-induced-pluripotent-stem-cell-pipsc-line-from-embryonic-fibroblasts-by-incorporating-lin28-to-the-four-transcriptional-factor-mediated-reprogramming-vsmui001-d
#16
Warunya Chakritbudsabong, Ladawan Sariya, Sirikron Pamonsupornvichit, Rassmeepen Pronarkngver, Somjit Chaiwattanarungruengpaisan, Joao N Ferreira, Piyathip Setthawong, Praopilas Phakdeedindan, Mongkol Techakumphu, Theerawat Tharasanit, Sasitorn Rungarunlert
Pig induced pluripotent stem cell (piPSC) line was generated from embryonic fibroblast cells using retroviral transduction approaches carrying human transcriptional factors: OCT4, SOX2, KLF4, c-MYC and LIN28. The generated piPSC line, VSMUi001-D, was positive for alkaline phosphatase activity and expressed the pluripotency associated transcription factors including OCT4, SOX2, NANOG and surface markers SSEA-1, all iPSC hallmarks of authenticity. Furthermore, VSMUi001-D exhibited a normal karyotype and formed embryoid bodies in vitro and teratomas in vivo...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034884/generation-of-six-multiple-sclerosis-patient-derived-induced-pluripotent-stem-cell-lines
#17
L Miquel-Serra, A Duarri, Y Muñoz, B Kuebler, B Aran, C Costa, M Martí, M Comabella, S Malhotra, X Montalban, A Veiga, A Raya
Multiple sclerosis (MS) is considered a chronic autoimmune disease of the central nervous system that leads to gliosis, demyelination, axonal damage and neuronal death. The MS disease aetiology is unknown, though a polymorphism of the TNFRSF1A gene, rs1800693, is known to confer an increased risk for MS. Using retroviral delivery of reprogramming transgenes, we generated six MS patient-specific iPSC lines with two distinct genotypes, CC or TT, of the polymorphism rs1800693. iPSC lines had normal karyotype, expressed pluripotency genes and differentiated into the three germ layers...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034881/generation-of-induced-pluripotent-stem-cells-derived-from-an-autosomal-dominant-polycystic-kidney-disease-patient-with-a-p-ser1457fs-mutation-in-pkd1
#18
Ching-Ying Huang, Ming-Ching Ho, Jia-Jung Lee, Daw-Yang Hwang, Hui-Wen Ko, Yu-Che Cheng, Yu-Hung Hsu, Huai-En Lu, Hung-Chun Chen, Patrick C H Hsieh
Autosomal dominant polycystic kidney disease is one of the most prevalent forms of inherited cystic kidney disease, and can be characterized by kidney cyst formation and enlargement. Here we report the generation of a Type 1 ADPKD disease iPS cell line, IBMS-iPSC-012-12, which retains the conserved deletion of PKD1, normal karyotype and exhibits the properties of pluripotent stem cells such as ES-like morphology, expression of pluripotent markers and capacity to differentiate into all three germ layers. Our results show that we have successfully generated a patient-specific iPS cell line with a mutation in PKD1 for study of renal disease pathophysiology...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034880/generation-of-induced-pluripotent-stem-cell-ipsc-line-from-a-patient-with-triple-negative-breast-cancer-with-hereditary-exon-17-deletion-of-brca1-gene
#19
Frank Griscelli, Noufissa Oudrhiri, Olivier Feraud, Dominique Divers, Lucie Portier, Ali G Turhan, Annelise Bennaceur Griscelli
BRCA1 germline mutation confers hereditary predisposition for breast and ovarian cancer. To understand the physiopathology of mammary and ovarian epithelial cancer transformation, and to identify early driver molecular events, we have generated an iPSC line from a patient carrying a germline exon 17 deletion in BRCA1 gene (BRAC1Ex17 iPSC) in a high-risk family context. Blood cells were reprogrammed used non-integrative virus of Sendaï. The BRCA1-deleted iPSC had normal karyotype, harboured a deletion in the exon 17 of the BRCA1 gene, expressed pluripotent hallmarks and had the differentiation capacity into the three germ layers...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29034879/induced-pluripotent-stem-cells-derived-from-an-autosomal-dominant-lateral-temporal-epilepsy-adlte-patient-carrying-s473l-mutation-in-leucine-rich-glioma-inactivated-1-lgi1
#20
Ghee Wan Tan, Takayuki Kondo, Nagahisa Murakami, Keiko Imamura, Takako Enami, Kayoko Tsukita, Ran Shibukawa, Misato Funayama, Riki Matsumoto, Akio Ikeda, Ryosuke Takahashi, Haruhisa Inoue
Autosomal dominant lateral temporal epilepsy (ADLTE) is an inherited epileptic syndrome, and it is associated with mutations of leucine-rich glioma inactivated 1 (LGI1) gene. The underlying mechanisms of ADLTE are still unknown, as human neurons are difficult to obtain as a research tool. Human induced pluripotent stem cells (iPSCs) allow the generation of patient-derived neuronal cells in a dish, and can be a promising tool to model ADLTE. Here, we report the establishment of human iPSCs from an ADLTE patient carrying LGI1 mutation (c...
October 2017: Stem Cell Research
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