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Induced pluripotent stem cell

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https://www.readbyqxmd.com/read/28926110/pacap-and-pac1r-are-differentially-expressed-in-motor-cortex-of-amyotrophic-lateral-sclerosis-patients-and-support-survival-of-ipsc-derived-motor-neurons
#1
Gabriele Bonaventura, Rosario Iemmolo, Agata Grazia D'Amico, Valentina La Cognata, Erminio Costanzo, Mario Zappia, Velia D'Agata, Francesca Luisa Conforti, Eleonora Aronica, Sebastiano Cavallaro
Amyotrophic lateral sclerosis (ALS) is a fatal and disabling neurodegenerative disease characterized by upper and lower motor neurons depletion. In our previous work, comprehensive genomic profiling of 41 motor cortex samples enabled to discriminate controls from sporadic ALS patients, and segregated these latter into two distinct subgroups (SALS1 and SALS2), each associated with different deregulated genes. In the present study, we focused our attention on two of them, Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP) and its type 1 receptor (PAC1R), and validated the results of the transcriptome experiments by quantitative reverse transcription-polymerase chain reaction (qRT-PCR), immunohistochemistry and western blot analysis...
September 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28925369/generation-of-a-gene-corrected-isogenic-control-ipsc-line-from-cystic-fibrosis-patient-specific-ipscs-homozygous-for-p-phe508del-mutation-mediated-by-talens-and-ssodn
#2
Sylvia Merkert, Christien Bednarski, Gudrun Göhring, Toni Cathomen, Ulrich Martin
Cystic fibrosis (CF) is a monogenetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which affects multiple organs. Human induced pluripotent stem cells (iPSCs) derived from CF patients and the generation of isogeneic gene-corrected control cell lines enable disease modelling, drug discovery or toxicological studies and therefore the development of CF patient-specific therapies. We have previously generated a hiPSC line from a CF patient homozygous for the p...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28925368/a-marfan-syndrome-human-induced-pluripotent-stem-cell-line-with-a-heterozygous-fbn1-c-4082g-a-mutation-ismmsi002-b-for-disease-modeling
#3
Sandra Klein, Jill L Dvornik, Akshitha R Yarrabothula, Christoph Schaniel
Fibroblasts of a 28-year-old female with Marfan syndrome (MFS) due to a heterozygous FBN1 c.4082G>A mutation were reprogrammed using the Sendai virus delivery method. The established human induced pluripotent stem cell (hiPSC) line named ISMMSi002-B expresses pluripotency markers, has a normal karyotype, carries the specific FBN1 mutation and is able to differentiate into three germ layers in vitro. ISMMSi002-B has utility in studying MFS pathogenesis, including skeletal abnormalities, cardiomyopathy, and vascular smooth muscle cell dysfunction associated with aortic aneurysm...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28925367/generation-of-integration-free-induced-pluripotent-stem-cells-gzhmui001-a-by-reprogramming-peripheral-blood-mononuclear-cells-from-a-47-xxx-syndrome-patient
#4
Yuchang Chen, Zhanhui Ou, Bing Song, Yexing Xian, Shuming Ouyang, Yuhuan Xie, Yanting Xue, Xiaofang Sun
47, XXX syndrome is one of several sex-chromosomal aneuploidies, and it has an incidence of approximately 1/1000 in newborn females. Because of heterogeneity in X-inactivation, these patients may exhibit a variety of clinical symptoms. Here, we report the generation of an integration-free human induced pluripotent stem cell line (GZHMUi001-A) by using Sendai virus to reprogram peripheral blood mononuclear cells from a 47, XXX syndrome patient with premature ovarian failure. This 47, XXX iPS cell line has characteristics of pluripotent stem cells and is a useful tool for the investigation of this X chromosome aneuploid disease...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28925365/generation-of-an-induced-pluripotent-stem-cell-ipsc-line-from-a-patient-with-maturity-onset-diabetes-of-the-young-type-13-mody13-with-a-the-potassium-inwardly-rectifying-channel-subfamily-j-member-11-kcnj11-mutation
#5
Frank Griscelli, Olivier Feraud, Tony Ernault, Noufissa Oudrihri, Ali G Turhan, Amélie Bonnefond, Philippe Froguel, Annelise Bennaceur-Griscelli
Heterozygous activating mutation (p.Glu227Lys) in KCNJ11 leads to maturity-onset diabetes of the young (MODY) type 13, that is a subtype of dominant inherited young-onset non-autoimmune diabetes due to a primary defect in pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with KCNJ11(p.Glu227Lys) mutation who developed MODY at 13years old. KCNJ11(p.Glu227Lys)-mutated cells that were reprogrammed by non-integrative viral transduction had normal karyotype, harboured the KCNJ11(p...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28925364/generation-and-characterization-of-a-human-ipsc-line-from-a-patient-with-propionic-acidemia-due-to-defects-in-the-pcca-gene
#6
Esmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R Desviat, Eva Richard
Human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia carrying mutations in the PCCA gene: c.1899+4_1899+7delAGTA; p.(Cys616_Val633del) and c.1430--?_1643+?del; p.(Gly477Glufs*9). Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability.
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28925363/generation-of-an-induced-pluripotent-stem-cell-line-from-a-patient-with-hereditary-multiple-endocrine-neoplasia-2b-men2b-syndrome-with-highest-risk-ret-mutation
#7
A Bennaceur-Griscelli, J Hadoux, O Féraud, P Opolon, D Divers, E Gobbo, M Schlumberger, F Griscelli, A G Turhan
Multiple Endocrine Neoplasia Type 2B (MEN2B) is a cancer-predisposing syndrome that affects patients with germline RET mutations. The clinical spectrum of the syndrome includes medullary thyroid carcinoma (MTC) and pheochromocytoma. Currently, there is no satisfactory model recapitulating all the features of the disease especially at the level of stem cells. We generated induced pluripotent stem cells (iPSCs) from a patient with RET mutation at codon 918 who developed pheochromocytoma and MTC. These iPSC had normal karyotype, harboured the RET(M918T) mutation and expressed pluripotency hallmarks...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28925360/establishment-of-an-induced-pluripotent-stem-cell-line-zzui003-a-from-a-65-year-old-male-with-sporadic-parkinson-s-disease
#8
Xiangyu Zheng, Zhiqiang Zhu, Kuisheng Chen, Shewei Guo, Tiantian Liu, Hongfang Liu
Skin fibroblasts were collected from a 65-year-old male patient with sporadic Parkinson's disease. Induced pluripotent stem cells were reprogrammed with human reprogramming factors (KMOSL) using the messenger RNA reprogramming protocol. The transgene-free iPSC line showed pluripotency, displayed normal karyotype, and could form embryoid bodies in vitro and differentiate into all 3 germ layers in vivo. This iPSC line can be a useful cellular model for studying the mechanism of Parkinson's disease.
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28925359/generation-of-an-oct4-reporter-human-induced-pluripotent-stem-cell-line-using-crispr-spcas9
#9
Diego Balboa, Jere Weltner, Yuval Novik, Solja Eurola, Kirmo Wartiovaara, Timo Otonkoski
OCT4 is a crucial transcription factor in the pluripotent stem cell gene regulatory network and an essential factor for pluripotent reprogramming. We engineered the previously reported HEL24.3 hiPSC to generate an OCT4 reporter cell line by knocking-in a T2A nuclear EmGFP reporter cassette before the OCT4 gene STOP codon sequence. To enhance targeted insertion, homologous recombination was stimulated using targeted cutting at the OCT4 STOP codon with CRISPR/SpCas9. This HEL24.3-OCT4-nEmGFP cell line faithfully reports endogenous OCT4 expression, serving as a useful tool to examine temporal changes in OCT4 expression in live cells during hiPSC culture, differentiation and somatic cell reprogramming...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28924979/quantification-of-etoposide-hypersensitivity-a-sensitive-functional-method-for-assessing-pluripotent-stem-cell-quality
#10
Frank J Secreto, Xing Li, Alyson J Smith, Elizabeth S Bruinsma, Ester Perales-Clemente, Saji Oommen, Gresin Hawse, Sybil C L Hrstka, Bonnie K Arendt, Emma B Brandt, Dennis A Wigle, Timothy J Nelson
Human induced pluripotent stem cells (hiPSC) hold great promise in diagnostic and therapeutic applications. However, translation of hiPSC technology depends upon a means of assessing hiPSC quality that is quantitative, high-throughput, and can decipher malignant teratocarcinoma clones from normal cell lines. These attributes are lacking in current approaches such as detection of cell surface makers, RNA profiling, and/or teratoma formation assays. The latter remains the gold standard for assessing clone quality in hiPSCs, but is expensive, time-consuming, and incompatible with high-throughput platforms...
September 19, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28924210/kinase-inhibitor-screening-using-artificial-neural-networks-and-engineered-cardiac-biowires
#11
Genevieve Conant, Samad Ahadian, Yimu Zhao, Milica Radisic
Kinase inhibitors are often used as cancer targeting agents for their ability to prevent the activation of cell growth and proliferation signals. Cardiotoxic effects have been identified for some marketed kinase inhibitors that were not detected during clinical trials. We hypothesize that more predictive cardiac functional assessments of kinase inhibitors on human myocardium can be established by combining a high-throughput two-dimensional (2D) screening assay and a high-content three-dimensional (3D) engineered cardiac tissue (Biowire(TM)) based assay, and using human induced pluripotent stem cell-derived CMs (hiPSC-CMs)...
September 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28924182/an-in-vitro-model-of-lissencephaly-expanding-the-role-of-dcx-during-neurogenesis
#12
M Shahsavani, R J Pronk, R Falk, M Lam, M Moslem, S B Linker, J Salma, K Day, J Schuster, B-M Anderlid, N Dahl, F H Gage, A Falk
Lissencephaly comprises a spectrum of brain malformations due to impaired neuronal migration in the developing cerebral cortex. Classical lissencephaly is characterized by smooth cerebral surface and cortical thickening that result in seizures, severe neurological impairment and developmental delay. Mutations in the X-chromosomal gene DCX, encoding doublecortin, is the main cause of classical lissencephaly. Much of our knowledge about DCX-associated lissencephaly comes from post-mortem analyses of patient's brains, mainly since animal models with DCX mutations do not mimic the disease...
September 19, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28924038/passive-dna-demethylation-preferentially-up-regulates-pluripotency-related-genes-and-facilitates-the-generation-of-induced-pluripotent-stem-cells
#13
Songwei He, Hao Sun, Lilong Lin, Yixin Zhang, Jinlong Chen, Lining Liang, Yuan Li, Mengdan Zhang, Xiao Yang, Xiaoshan Wang, Fuhui Wang, Feiyan Zhu, Jiekai Chen, Duanqing Pei, Hui Zheng
A high proliferation rate has been observed to facilitate somatic cell reprogramming, but the pathways that connect proliferation and reprogramming have not been reported. DNA methyltransferase 1 (DNMT1) methylates hemimethylated CpG sites produced during S phase and maintains stable inheritance of DNA methylation. Impairing this process results in passive DNA demethylation. In this study, we show that the cell proliferation rate positively correlated with the expression of Dnmt1 in G1 phase. In addition, as determined by whole genome bisulfate sequencing and high-performance liquid chromatography, global DNA methylation of mouse embryonic fibroblasts (MEFs) was significantly higher in G1 phase than in G2/M phase...
September 18, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28922739/o-glcnac-transferase-regulates-transcriptional-activity-of-human-oct4
#14
Sandii Constable, Jae-Min Lim, Krithika Vaidyanathan, Lance Wells
O-linked β-N-acetylglucosamine (O-GlcNAc) is a single sugar modification found on many different classes of nuclear and cytoplasmic proteins. Addition of this modification, by the enzyme O-linked N-acetylglucosamine transferase (OGT), is dynamic and inducible. One major class of proteins modified by O-GlcNAc is transcription factors. O-GlcNAc regulates transcription factor properties through a variety of different mechanisms including localization, stability and transcriptional activation. Maintenance of embryonic stem (ES) cell pluripotency requires tight regulation of several key transcription factors, many of which are modified by O-GlcNAc...
October 1, 2017: Glycobiology
https://www.readbyqxmd.com/read/28922348/stem-cell-biology-and-regenerative-medicine-for-neonatal-lung-diseases
#15
REVIEW
Martin Kang, Bernard Thébaud
Lung diseases remain one of the main causes of morbidity and mortality in neonates. Cell therapy and regenerative medicine have the potential to revolutionize the management of life-threatening and debilitating lung diseases that currently lack effective treatments. Over the past decade, the repair capabilities of stem/progenitor cells has been harnessed to prevent/rescue lung damage in experimental neonatal lung diseases. Mesenchymal stromal cells and amnion epithelial cells exert pleiotropic effects and represent ideal therapeutic cells for bronchopulmonary dysplasia, a multifactorial disease...
September 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28921822/construction-of-human-induced-pluripotent-stem-cell-derived-oriented-bone-matrix-microstructure-by-using-in-vitro-engineered-anisotropic-culture-model
#16
Ryosuke Ozasa, Aira Matsugaki, Yoshihiro Isobe, Taro Saku, Hui-Suk Yun, Takayoshi Nakano
Bone tissue has anisotropic microstructure based on collagen/biological apatite orientation, which plays essential roles in the mechanical and biological functions of bone. However, obtaining an appropriate anisotropic microstructure during the bone regeneration process remains a great challenging. A powerful strategy for the control of both differentiation and structural development of newly-formed bone is required in bone tissue engineering, in order to realize functional bone tissue regeneration. In this study, we developed a novel anisotropic culture model by combining human induced pluripotent stem cells (hiPSCs) and artificially-controlled oriented collagen scaffold...
September 16, 2017: Journal of Biomedical Materials Research. Part A
https://www.readbyqxmd.com/read/28919488/mast-cells-derived-from-human-induced-pluripotent-stem-cells-are-useful-for-allergen-tests
#17
Akira Igarashi, Yasuhiro Ebihara, Tomoaki Kumagai, Hiroyuki Hirai, Kinya Nagata, Kohichiro Tsuji
BACKGROUND: Several methods have been developed to detect allergen-specific IgE in sera. The passive IgE sensitization assay using human IgE receptor-expressing rat cell line RBL-2H3 is a powerful tool to detect biologically active allergen-specific IgE in serum samples. However, one disadvantage is that RBL-2H3 cells are vulnerable to high concentrations of human sera. Only a few human cultured cell lines are easily applicable to the passive IgE sensitization assay. However, the use of human induced pluripotent stem cells (iPSCs) to generate human mast cells (MCs) has not yet been reported...
September 14, 2017: Allergology International: Official Journal of the Japanese Society of Allergology
https://www.readbyqxmd.com/read/28919261/top-down-inhibition-of-bmp-signaling-enables-robust-induction-of-hpscs-into-neural-crest-in-fully-defined-xeno-free-conditions
#18
James O S Hackland, Tom J R Frith, Oliver Thompson, Ana Marin Navarro, Martin I Garcia-Castro, Christian Unger, Peter W Andrews
Defects in neural crest development have been implicated in many human disorders, but information about human neural crest formation mostly depends on extrapolation from model organisms. Human pluripotent stem cells (hPSCs) can be differentiated into in vitro counterparts of the neural crest, and some of the signals known to induce neural crest formation in vivo are required during this process. However, the protocols in current use tend to produce variable results, and there is no consensus as to the precise signals required for optimal neural crest differentiation...
September 13, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28919206/pluripotency-surveillance-by-myc-driven-competitive-elimination-of-differentiating-cells
#19
Covadonga Díaz-Díaz, Laura Fernandez de Manuel, Daniel Jimenez-Carretero, María Concepción Montoya, Cristina Clavería, Miguel Torres
The mammalian epiblast is formed by pluripotent cells able to differentiate into all tissues of the new individual. In their progression to differentiation, epiblast cells and their in vitro counterparts, embryonic stem cells (ESCs), transit from naive pluripotency through a differentiation-primed pluripotent state. During these events, epiblast cells and ESCs are prone to death, driven by competition between Myc-high cells (winners) and Myc-low cells (losers). Using live tracking of Myc levels, we show that Myc-high ESCs approach the naive pluripotency state, whereas Myc-low ESCs are closer to the differentiation-primed state...
September 9, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28918520/derivation-of-human-induced-pluripotent-stem-cell-ipsc-lines-and-mechanism-of-pluripotency-historical-perspective-and-recent-advances
#20
REVIEW
Arvind Chhabra
Derivation of human embryonic stem cell (hES) lines in 1998 was not only a major technological breakthrough in the field of regenerative medicine; it also triggered a passionate debate about the ethical issues associated with the utilization of human embryos for derivation of hESC lines. Successful derivation of induced pluripotent stem cell (iPS) lines from human somatic cells with defined reprogramming factors by Shinya Yamanaka`s group in 2007 was another breakthrough that generated enormous excitement and hope for the development of donor-specific personalized cell replacement therapies (CRT) without the ethical dilemma associated with it...
September 16, 2017: Stem Cell Reviews
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