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Stem Cell Research

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https://www.readbyqxmd.com/read/29342448/generation-of-induced-pluripotent-stem-cell-line-cssi002-a-2851-from-a-patient-with-juvenile-huntington-disease
#1
Jessica Rosati, Eris Bidollari, Giovannina Rotundo, Daniela Ferrari, Barbara Torres, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Ferdinando Squitieri, Angelo Luigi Vescovi
Huntington Disease (HD) is an autosomal dominant disorder characterized by motor, cognitive and behavioral features caused by a CAG expansion in the HTT gene beyond 35 repeats. The juvenile form (JHD) may begin before the age of 20years and is associated with expanded alleles as long as 60 or more CAG repeats. In this study, induced pluripotent stem cells were generated from skin fibroblasts of a 8-year-old child carrying a large size mutation of 84 CAG repeats in the HTT gene. HD appeared at age 3 with mixed psychiatric (i...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29334628/production-and-characterization-of-human-induced-pluripotent-stem-cells-ipscs-from-joubert-syndrome-cssi001-a-2850
#2
Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi
Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29331939/volumetric-muscle-loss-injury-repair-using-in-situ-fibrin-gel-cast-seeded-with-muscle-derived-stem-cells-mdscs
#3
Nadine Matthias, Samuel D Hunt, Jianbo Wu, Jonathan Lo, Laura A Smith Callahan, Yong Li, Johnny Huard, Radbod Darabi
Volumetric muscle defect, caused by trauma or combat injuries, is a major health concern leading to severe morbidity. It is characterized by partial or full thickness loss of muscle and its bio-scaffold, resulting in extensive fibrosis and scar formation. Therefore, the ideal therapeutic option is to use stem cells combined with bio-scaffolds to restore muscle. For this purpose, muscle-derived stem cells (MDSCs) are a great candidate due to their unique multi-lineage differentiation potential. In this study, we evaluated the regeneration potential of MDSCs for muscle loss repair using a novel in situ fibrin gel casting...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29320756/generation-of-an-induced-pluripotent-stem-cell-line-from-an-adult-male-with-45-x-46-xy-mosaicism
#4
Yumei Luo, Detu Zhu, Xiangye Xu, Lingxia Ge, Xiaofang Sun, Guokai Chen, Yaoyong Chen
Turner syndrome (TS) with 45,X/46,XY mosaic karyotype is a rare sex chromosome disorder with an occurrence of 0.15‰ at birth. We report the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a Chinese adult male with 45,X/46,XY mosaicism. The iPSC line retains the original 45,X/46,XY mosaic karyotype, expresses pluripotency markers and undergoes trilineage differentiation. Therefore, it offers an unprecedented cellular model to investigate the profound symptoms like infertility of TS in the male, and serve as a useful tool to develop therapies for the disease...
January 5, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29334630/generation-of-an-integration-free-induced-pluripotent-stem-cell-line-csc-43j-from-a-patient-with-sporadic-parkinson-s-disease
#5
Ana Marote, Yuriy Pomeshchik, Stefano Goldwurm, Anna Collin, Nuno J Lamas, Luísa Pinto, António J Salgado, Laurent Roybon
An induced pluripotent stem cell (iPSC) line was generated from a 36-year-old patient with sporadic Parkinson's disease (PD). Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line (CSC-43) exhibits expression of common pluripotency markers, in vitro differentiation into three germ layers and normal karyotype. This iPSC line can be used to study the mechanisms underlying the development of PD.
January 4, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29334629/generation-of-a-human-induced-pluripotent-stem-cell-line-csc-42-from-a-patient-with-sporadic-form-of-parkinson-s-disease
#6
Ekaterina Savchenko, Ana Marote, Kaspar Russ, Anna Collin, Stefano Goldwurm, Laurent Roybon, Yuriy Pomeshchik
Skin fibroblasts were collected from a 44-year-old patient with sporadic case of Parkinson's disease (PD). The non-integrating Sendai virus vector encoding OCT3/4, SOX2, c-MYC and KLF4 was used to reprogram fibroblasts into induced pluripotent stem cells (iPSCs). Generated iPSCs had normal karyotypes, expressed common stem cell markers, and were capable of differentiating into all three germ layers. Generated line could be used for PD modeling to understand the mechanisms that influence the disorder.
January 4, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29331938/generation-of-a-human-induced-pluripotent-stem-cell-line-csc-40-from-a-parkinson-s-disease-patient-with-a-pink1-p-q456x-mutation
#7
Kaspar Russ, Ana Marote, Ekaterina Savchenko, Anna Collin, Stefano Goldwurm, Yuriy Pomeshchik, Laurent Roybon
Parkinson's disease (PD) is a neurodegenerative disease with unknown etiology. Here we show the generation of an induced pluripotent stem cell (iPSC) line, named CSC-40, from dermal fibroblasts obtained from a 59-year-old male patient with a homozygous p.Q456X mutation in the PTEN-induced putative kinase 1 (PINK/PARK6) gene and a confirmed diagnosis of PD, which could be used to model familial PD. A non-integrating Sendai virus-based delivery of the reprogramming factors OCT3/4, SOX2, c-MYC and KLF4 was employed...
January 4, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29328972/establishment-of-tusmi003-a-an-induced-pluripotent-stem-cell-ipsc-line-from-a-62-year-old-chinese-han-patient-with-alzheimer-s-disease-with-apoe3-4-genetic-background
#8
Ying Wang, Hongxiang Yu, Yue Zhang, Jing Zhang, Keni Chen, Heng Sun, Shulin Meng, Gang Li, Ying Lei, Jian Zhao
A 62-year old Chinese Han Alzheimer's disease (AD) female patient with ApoE3/4 genetic background donated her Peripheral blood mononuclear cells (PBMC). The non-integrating episomal vector system was used to reprogrammed PBMCs with the human OKSM 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...
January 4, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29324254/prdm14-is-expressed-in-germ-cell-tumors-with-constitutive-overexpression-altering-human-germline-differentiation-and-proliferation
#9
Joanna J Gell, Jasmine Zhao, Di Chen, Timothy J Hunt, Amander T Clark
Germ cell tumors (GCTs) are a heterogeneous group of tumors occurring in gonadal and extragonadal locations. GCTs are hypothesized to arise from primordial germ cells (PGCs), which fail to differentiate. One recently identified susceptibility loci for human GCT is PR (PRDI-BF1 and RIZ) domain proteins 14 (PRDM14). PRDM14 is expressed in early primate PGCs and is repressed as PGCs differentiate. To examine PRDM14 in human GCTs we profiled human GCT cell lines and patient samples and discovered that PRDM14 is expressed in embryonal carcinoma cell lines, embryonal carcinomas, seminomas, intracranial germinomas and yolk sac tumors, but is not expressed in teratomas...
January 4, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29310059/human-induced-pluripotent-stem-cell-line-with-cytochrome-p450-enzyme-polymorphism-cyp2c19-2-cyp3a5-3c-generated-from-lymphoblastoid-cells
#10
Jaehun Lee, Dong-Hun Woo, Han-Jin Park, Kijung Park, Duck Sung Ko, Jong-Hoon Kim
Cytochrome P450 (CYP) comprises a superfamily of monooxygenase responsible for the metabolism of xenobiotics and approximately 75% of drugs in use today. Thus, genetic polymorphisms in CYP genes contribute to interindividual differences in hepatic metabolism of drugs, affecting on individual drug efficacy and may cause adverse effects. Here, we generated a human induced pluripotent stem cell (hiPSC) line with pharmacologically important traits (CYP2C19*2/CYP3A5*3C), which are highly polymorphic in Asian from lymphoblastoid cells...
December 23, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29291512/generation-of-fhl2-homozygous-knockout-lines-from-human-embryonic-stem-cells-by-crispr-cas9-mediated-ablation
#11
Chia-Wei Chang, Chih-Chia Chang, Kuo-Chiang Hsia, Su-Yi Tsai
Cardiovascular disease is the leading cause of morbidity and mortality in the world. Mutations in the FHL2 (Four and a half LIM domains protein 2) gene are associated with cardiomyopathy in patients. Here, we generated two homozygous knockout lines using CRISPR/Cas9-mediated ablation in a human embryonic stem cell (hESC) WA09 line. These knockout lines exhibit a normal karyotype without expressing FHL2 protein, while maintaining pluripotency and differentiation properties. These isogenic mutation lines will be provided as a disease model for cardiomyopathy studies and drug screening...
December 23, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29274886/establishment-of-human-ipsc-line-nccsi003-a-from-cd34-cells-of-peripheral-blood-collected-during-apheresis-of-healthy-donor-from-indian-ethnicity
#12
Sophia Fernandes, Shruti Tembe, Prajakta Shinde, Sameer Melinkeri, Vaijayanti Kale, Lalita Limaye
We present generation of iPSCs from CD34+ cells isolated from peripheral blood, collected during apheresis of a healthy female individual. We nucleofected the CD34+cells by episomal vectors containing Oct4, Sox2, L-Myc, Lin28, Klf4 and p53DD (dominant negative mutation in p53). The resultant colonies showed cobble-stone appearance and stained positive for alkaline phosphatase. The colonies demonstrated presence of pluripotency markers by immunofluorescence, flow-cytometry and PCR. The plasmids were lost from cells subsequently during passages as assessed by PCR...
December 20, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29288969/generation-of-an-induced-pluripotent-stem-cell-ipsc-line-from-a-40-year-old-patient-with-the-a8344g-mutation-of-mitochondrial-dna-and-merrf-myoclonic-epilepsy-with-ragged-red-fibers-syndrome
#13
Yu-Ting Wu, Yu-Hung Hsu, Ching-Ying Huang, Ming-Ching Ho, Yu-Che Cheng, Cheng-Hao Wen, Hui-Wen Ko, Huai-En Lu, Yen-Chun Chen, Chia-Ling Tsai, Yi-Chao Hsu, Yau-Huei Wei, Patrick C H Hsieh
Mitochondrial defects are associated with clinical manifestations from common diseases to rare genetic disorders. Myoclonus epilepsy associated with ragged-red fibers (MERRF) syndrome results from an A to G transition at nucleotide position 8344 in the tRNALys gene of mitochondrial DNA (mtDNA) and is characterized by myoclonus, myopathy and severe neurological symptoms. In this study, Sendai reprogramming method was used to generate an iPS cell line carrying the A8344G mutation of mtDNA from a MERRF patient...
December 19, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29304398/generation-of-human-induced-pluripotent-stem-cells-euraci001-a-euraci002-a-euraci003-a-from-peripheral-blood-mononuclear-cells-of-three-patients-carrying-mutations-in-the-cav3-gene
#14
Viviana Meraviglia, Patrizia Benzoni, Sara Landi, Carmen Murano, Marianna Langione, Benedetta M Motta, Serena Baratto, Rosamaria Silipigni, Marina Di Segni, Peter P Pramstaller, Dario DiFrancesco, Elisabetta Gazzerro, Andrea Barbuti, Alessandra Rossini
Caveolinopathies are a heterogeneous family of genetic pathologies arising from alterations of the caveolin-3 gene (CAV3), encoding for the isoform specifically constituting muscle caveolae. Here, by reprogramming peripheral blood mononuclear cells, we report the generation of induced pluripotent stem cells (iPSCs) from three patients carrying the ΔYTT deletion, T78K and W101C missense mutations in caveolin-3. iPSCs displayed normal karyotypes and all the features of pluripotent stem cells in terms of morphology, specific marker expression and ability to differentiate in vitro into the three germ layers...
December 18, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29274549/lymphoblastoids-cell-lines-derived-ipsc-line-from-a-26-year-old-myotonic-dystrophy-type-1-patient-carrying-ctg-200-expansion-in-the-dmpk-gene-chuqi001-a
#15
Laurie Martineau, Véronique Racine, Siham Ait Benichou, Jack Puymirat
Human immortalized Epstein-Barr virus (EBV) lymphoblastoids cells line (LCLs) from a 26-year- old male affected by an adult form of myotonic dystrophy type 1 (DM1) disease and carrying 200 CTG repeats mutation in the blood was used to generate induced pluripotent stem cells (iPSCs) using the Sendai virus expressing KLF4, OCT4, SOX2 and C-MYC. The resulting iPSCs were EBV free, expressed the pluripotency markers, could be differentiated into the three germ layers in vitro, had a normal karyotype, and retained the genetic DM1 mutation...
December 16, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29291511/establishment-and-characterization-of-induced-pluripotent-stem-cells-from-placental-mesenchymal-stromal-cells
#16
Shagufta Parveen
Human term placenta is a bulky organ which harbours abundant mesenchymal stromal cells. This study reports isolation and characterization of placental mesenchymal stromal cells (PMSCs) followed by reprogramming of PMSCs to induced pluripotent stem cells (iPSCs). The placental human iPSC (PhiPSC) line is pluripotent with high telomerase activity, genetically identical to parental PMSCs, transgene free, karyotypically normal and differentiates into ectoderm, mesoderm and endoderm both in vitro and in vivo. Thus PMSCs serve as a unique cell type for human perinatal iPSC derivation from extra embryonic tissue...
December 14, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29310060/generation-of-a-gde-heterozygous-mutation-human-embryonic-stem-cell-line-wae001-a-14-by-crispr-cas9-editing
#17
Guosheng Xu, Dongsheng Guo, Feima Wu, Nasir Abbas, Keyu Lai, Fang Yuan, Kai You, Yanli Liu, Yuanqi Zhuang, Yuhang Wu, Yingying Xu, Yan Chen, Fan Yang, Tingcai Pan, Yin-Xiong Li
Glycogen debranching enzyme (GDE) plays a critical role in glycogenolysis. Mutations in the GDE gene are associated with a metabolic disease known as glycogen storage disease type III (GSDIII). We generated a mutant GDE human embryonic stem cell line, WAe001-A-14, using the CRISPR/Cas9 editing system. This cell line contains a 24-nucleotide deletion within exon-13 of GDE, resulting in 8 amino acids (TRLGISSL) missing of the GDE protein from amino acid position 567 to 575. The WAe001-A-14 cell line maintains typical stem cell morphology, pluripotency and in vitro differentiation potential, and a normal karyotype...
December 13, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29272857/fosl1-overexpression-directly-activates-trophoblast-specific-gene-expression-programs-in-embryonic-stem-cells
#18
Bum-Kyu Lee, Nadima Uprety, Yu Jin Jang, Scott K Tucker, Catherine Rhee, Lucy LeBlanc, Samuel Beck, Jonghwan Kim
During early development in placental mammals, proper trophoblast lineage development is essential for implantation and placentation. Defects in this lineage can cause early pregnancy failures and other pregnancy disorders. However, transcription factors controlling trophoblast development remain poorly understood. Here, we utilize Fosl1, previously implicated in trophoblast giant cell development as a member of the AP-1 complex, to trans-differentiate embryonic stem (ES) cells to trophoblast lineage-like cells...
December 13, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29268156/derivation-of-human-ipsc-line-nccsi002-a-from-umbilical-cord-blood-ucb-cd34-cells-of-donor-from-indian-ethnicity
#19
Sophia Fernandes, Prajakta Shinde, Nikhat Khan, Sanjay Singh, Shakti Vardhan, Velu Nair, Vaijayanti Kale, Lalita Limaye
We discuss the reprogramming of CD34+ cells isolated from UCB of a healthy female child of Indian ethnicity. The CD34+cells were nucleofected using episomal vectors expressing Oct4, Sox2, L-Myc, Klf4, Lin28 and p53DD (negative mutation in p53). The colonies were stained for alkaline phosphatase and evaluated for pluripotency marker expression by PCR, immunofluorescence and flow-cytometry. The safety of cells was confirmed by absence of plasmid in subsequent passages by PCR. G-banded karyotype demonstrated a stable genome...
December 13, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29268155/lymphoblast-derived-integration-free-isrm-con9-ips-cell-line-from-a-75year-old-female
#20
Soraia Martins, Martina Bohndorf, Friederike Schröter, Fatima Assar, Wasco Wruck, Kristel Sleegers, Christine Van Broeckhoven, James Adjaye
Human lymphoblast cells were used to generate integration-free induced pluripotent stem cells (iPSCs) employing episomal-based plasmids expressing OCT4, SOX2, NANOG, LIN28, c-MYC and L-MYC. The derived iPSCs were defined as pluripotent based on (i) expression of pluripotency-associated markers, (ii) embryoid body-based differentiation into cell types representative of the three germ layers and (iii) the similarity between the transcriptomes of the iPSC line and the human embryonic stem cell line H1 with a Pearson correlation of 0...
December 13, 2017: Stem Cell Research
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