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  1. Article ; Online: Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation

    Tyson W. Lager / Junjun Zuo / Md Suhail Alam / Barbara Calhoun / Kasturi Haldar / Athanasia D. Panopoulos

    Stem Cell Research, Vol 62, Iss , Pp 102799- (2022)

    2022  

    Abstract: Kabuki syndrome (KS) is a rare genetic disorder typically characterized by facial abnormalities, developmental delay, cognitive dysfunction, and organ impairment. In this report, fibroblast cells obtained from a KS patient containing a heterozygous KMT2D ...

    Abstract Kabuki syndrome (KS) is a rare genetic disorder typically characterized by facial abnormalities, developmental delay, cognitive dysfunction, and organ impairment. In this report, fibroblast cells obtained from a KS patient containing a heterozygous KMT2D c.12592 C>T mutation (p.R4198X) were reprogrammed using non-integrative Sendai virus to generate three induced pluripotent stem cell (iPSC) clones. The iPSC lines retained the KS patient mutation, and displayed normal karyotypes, pluripotency marker expression, and the ability to differentiate into the three germ layers.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2022-07-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Two iPSC lines generated from the bone marrow of a relapsed/refractory AML patient display normal karyotypes and myeloid differentiation potential

    Amanda E. Yamasaki / Nicholas E. King / Hiroko Matsui / Kristen Jepsen / Athanasia D. Panopoulos

    Stem Cell Research, Vol 41, Iss , Pp - (2019)

    2019  

    Abstract: Using iPSCs to study cancer has been complicated by the fact that many cancer cells are difficult to reprogram, which has been attributed to the genomic abnormalities present. Acute Myeloid Leukemia (AML) is a complex disease that presents with various ... ...

    Abstract Using iPSCs to study cancer has been complicated by the fact that many cancer cells are difficult to reprogram, which has been attributed to the genomic abnormalities present. Acute Myeloid Leukemia (AML) is a complex disease that presents with various types of genomic aberrations that affect prognosis. Here we reprogrammed CD34+ cells from an AML patient containing a rare der(7)t(7;13) translocation associated with poor prognosis, who had relapsed and was refractory to current treatments. The generated AML-iPSCs displayed normal karyotypes and myeloid differentiation potential. These findings have implications for modeling and treating AML disease. Keywords: Acute Myeloid Leukemia, Bone marrow cells, Disease modeling, Reprogramming, Induced pluripotent stem cells
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2019-12-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Understanding the genetics behind complex human disease with large-scale iPSC collections

    Amanda E. Yamasaki / Athanasia D. Panopoulos / Juan Carlos Izpisua Belmonte

    Genome Biology, Vol 18, Iss 1, Pp 1-

    2017  Volume 3

    Abstract: Abstract Three recent studies analyzing large-scale collections of human induced pluripotent stem cell lines provide valuable insight into how genetic regulatory variation affects cellular and molecular traits. ...

    Abstract Abstract Three recent studies analyzing large-scale collections of human induced pluripotent stem cell lines provide valuable insight into how genetic regulatory variation affects cellular and molecular traits.
    Keywords Biology (General) ; QH301-705.5 ; Genetics ; QH426-470
    Language English
    Publishing date 2017-07-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: An iPSC line derived from a human acute myeloid leukemia cell line (HL-60-iPSC) retains leukemic abnormalities and displays myeloid differentiation defects

    Amanda E. Yamasaki / Jane N. Warshaw / Beverly L. Kyalwazi / Hiroko Matsui / Kristen Jepsen / Athanasia D. Panopoulos

    Stem Cell Research, Vol 49, Iss , Pp 102096- (2020)

    2020  

    Abstract: Cancer-derived iPSCs have provided valuable insight into oncogenesis, but human cancer cells can often be difficult to reprogram, especially in cases of complex genetic abnormalities. Here we report, to our knowledge, the first successful generation of ... ...

    Abstract Cancer-derived iPSCs have provided valuable insight into oncogenesis, but human cancer cells can often be difficult to reprogram, especially in cases of complex genetic abnormalities. Here we report, to our knowledge, the first successful generation of an iPSC line from a human immortalized acute myeloid leukemia (AML) cell line, the cell line HL-60. This iPSC line retains a majority of the leukemic genotype and displays defects in myeloid differentiation, thus providing a tool for modeling and studying AML.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2020-12-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Cell surface GRP78 promotes stemness in normal and neoplastic cells

    Clay Conner / Tyson W. Lager / Ian H. Guldner / Min-Zu Wu / Yuriko Hishida / Tomoaki Hishida / Sergio Ruiz / Amanda E. Yamasaki / Robert C. Gilson / Juan Carlos Izpisua Belmonte / Peter C. Gray / Jonathan A. Kelber / Siyuan Zhang / Athanasia D. Panopoulos

    Scientific Reports, Vol 10, Iss 1, Pp 1-

    2020  Volume 11

    Abstract: Abstract Reliable approaches to identify stem cell mechanisms that mediate aggressive cancer could have great therapeutic value, based on the growing evidence of embryonic signatures in metastatic cancers. However, how to best identify and target stem- ... ...

    Abstract Abstract Reliable approaches to identify stem cell mechanisms that mediate aggressive cancer could have great therapeutic value, based on the growing evidence of embryonic signatures in metastatic cancers. However, how to best identify and target stem-like mechanisms aberrantly acquired by cancer cells has been challenging. We harnessed the power of reprogramming to examine GRP78, a chaperone protein generally restricted to the endoplasmic reticulum in normal tissues, but which is expressed on the cell surface of human embryonic stem cells and many cancer types. We have discovered that (1) cell surface GRP78 (sGRP78) is expressed on iPSCs and is important in reprogramming, (2) sGRP78 promotes cellular functions in both pluripotent and breast cancer cells (3) overexpression of GRP78 in breast cancer cells leads to an induction of a CD24−/CD44+ tumor initiating cell (TIC) population (4) sGRP78+ breast cancer cells are enriched for stemness genes and appear to be a subset of TICs (5) sGRP78+ breast cancer cells show an enhanced ability to seed metastatic organ sites in vivo. These collective findings show that GRP78 has important functions in regulating both pluripotency and oncogenesis, and suggest that sGRP78 marks a stem-like population in breast cancer cells that has increased metastatic potential in vivo.
    Keywords Medicine ; R ; Science ; Q
    Subject code 610
    Language English
    Publishing date 2020-02-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells

    Matteo D'Antonio / Grace Woodruff / Jason L. Nathanson / Agnieszka D'Antonio-Chronowska / Angelo Arias / Hiroko Matsui / Roy Williams / Cheryl Herrera / Sol M. Reyna / Gene W. Yeo / Lawrence S.B. Goldstein / Athanasia D. Panopoulos / Kelly A. Frazer

    Stem Cell Reports, Vol 8, Iss 4, Pp 1101-

    2017  Volume 1111

    Abstract: Summary: Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) offers the possibility of studying the molecular mechanisms underlying human diseases in cell types difficult to extract from living patients, such as neurons and ... ...

    Abstract Summary: Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) offers the possibility of studying the molecular mechanisms underlying human diseases in cell types difficult to extract from living patients, such as neurons and cardiomyocytes. To date, studies have been published that use small panels of iPSC-derived cell lines to study monogenic diseases. However, to study complex diseases, where the genetic variation underlying the disorder is unknown, a sizable number of patient-specific iPSC lines and controls need to be generated. Currently the methods for deriving and characterizing iPSCs are time consuming, expensive, and, in some cases, descriptive but not quantitative. Here we set out to develop a set of simple methods that reduce cost and increase throughput in the characterization of iPSC lines. Specifically, we outline methods for high-throughput quantification of surface markers, gene expression analysis of in vitro differentiation potential, and evaluation of karyotype with markedly reduced cost. : Working as part of the NHLBI NextGen consortium, D'Antonio and colleagues developed three simple methods that reduce cost and increase throughput in the characterization of iPSCs. These methods include: (1) fluorescent cell barcoding flow cytometry to investigate heterogeneity; (2) gene expression analysis to examine in vitro differentiation potential; and (3) high-resolution digital karyotyping to detect chromosomal aberrations. Keywords: induced pluripotent stem cells, high-throughput methods, pluripotency characterization, differentiation potential, flow cytometry, qPCR, SNP arrays, digital karyotyping, fluorescent cell barcoding
    Keywords Medicine (General) ; R5-920 ; Biology (General) ; QH301-705.5
    Language English
    Publishing date 2017-04-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: Rapid and highly efficient generation of induced pluripotent stem cells from human umbilical vein endothelial cells.

    Athanasia D Panopoulos / Sergio Ruiz / Fei Yi / Aída Herrerías / Erika M Batchelder / Juan Carlos Izpisua Belmonte

    PLoS ONE, Vol 6, Iss 5, p e

    2011  Volume 19743

    Abstract: The ability to induce somatic cells to pluripotency by ectopic expression of defined transcription factors (e.g. KLF-4, OCT4, SOX2, c-MYC, or KOSM) has transformed the future of regenerative medicine. Here we report somatic cell reprogramming of human ... ...

    Abstract The ability to induce somatic cells to pluripotency by ectopic expression of defined transcription factors (e.g. KLF-4, OCT4, SOX2, c-MYC, or KOSM) has transformed the future of regenerative medicine. Here we report somatic cell reprogramming of human umbilical vein endothelial cells (HUVECs), yielding induced pluripotent stem (iPS) cells with the fastest kinetics, and one of the highest reprogramming efficiencies for a human somatic cell to date. HUVEC-derived iPS (Huv-iPS) cell colonies appeared as early as 6 days after a single KOSM infection, and were generated with a 2.5-3% reprogramming efficiency. Furthermore, when HUVEC reprogramming was performed under hypoxic conditions in the presence of a TGF-beta family signaling inhibitor, colony formation increased an additional ∼2.5-fold over standard conditions. Huv-iPS cells were indistinguishable from human embryonic stem (ES) cells with regards to morphology, pluripotent marker expression, and their ability to generate all embryonic germ layers in vitro and in vivo. The high efficiency and rapid kinetics of Huv-iPS cell formation, coupled with the ease by which HUVECs can be collected, expanded and stored, make these cells an attractive somatic source for therapeutic application, and for studying the reprogramming process.
    Keywords Medicine ; R ; Science ; Q
    Language English
    Publishing date 2011-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  8. Article ; Online: High-efficient generation of induced pluripotent stem cells from human astrocytes.

    Sergio Ruiz / Kristen Brennand / Athanasia D Panopoulos / Aída Herrerías / Fred H Gage / Juan Carlos Izpisua-Belmonte

    PLoS ONE, Vol 5, Iss 12, p e

    2010  Volume 15526

    Abstract: The reprogramming of human somatic cells to induced pluripotent stem (hiPS) cells enables the possibility of generating patient-specific autologous cells for regenerative medicine. A number of human somatic cell types have been reported to generate hiPS ... ...

    Abstract The reprogramming of human somatic cells to induced pluripotent stem (hiPS) cells enables the possibility of generating patient-specific autologous cells for regenerative medicine. A number of human somatic cell types have been reported to generate hiPS cells, including fibroblasts, keratinocytes and peripheral blood cells, with variable reprogramming efficiencies and kinetics. Here, we show that human astrocytes can also be reprogrammed into hiPS (ASThiPS) cells, with similar efficiencies to keratinocytes, which are currently reported to have one of the highest somatic reprogramming efficiencies. ASThiPS lines were indistinguishable from human embryonic stem (ES) cells based on the expression of pluripotent markers and the ability to differentiate into the three embryonic germ layers in vitro by embryoid body generation and in vivo by teratoma formation after injection into immunodeficient mice. Our data demonstrates that a human differentiated neural cell type can be reprogrammed to pluripotency and is consistent with the universality of the somatic reprogramming procedure.
    Keywords Medicine ; R ; Science ; Q
    Language English
    Publishing date 2010-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: iPSCORE

    Athanasia D. Panopoulos / Matteo D'Antonio / Paola Benaglio / Roy Williams / Sherin I. Hashem / Bernhard M. Schuldt / Christopher DeBoever / Angelo D. Arias / Melvin Garcia / Bradley C. Nelson / Olivier Harismendy / David A. Jakubosky / Margaret K.R. Donovan / William W. Greenwald / KathyJean Farnam / Megan Cook / Victor Borja / Carl A. Miller / Jonathan D. Grinstein /
    Frauke Drees / Jonathan Okubo / Kenneth E. Diffenderfer / Yuriko Hishida / Veronica Modesto / Carl T. Dargitz / Rachel Feiring / Chang Zhao / Aitor Aguirre / Thomas J. McGarry / Hiroko Matsui / He Li / Joaquin Reyna / Fangwen Rao / Daniel T. O'Connor / Gene W. Yeo / Sylvia M. Evans / Neil C. Chi / Kristen Jepsen / Naoki Nariai / Franz-Josef Müller / Lawrence S.B. Goldstein / Juan Carlos Izpisua Belmonte / Eric Adler / Jeanne F. Loring / W. Travis Berggren / Agnieszka D'Antonio-Chronowska / Erin N. Smith / Kelly A. Frazer

    Stem Cell Reports, Vol 8, Iss 4, Pp 1086-

    A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types

    2017  Volume 1100

    Abstract: Summary: Large-scale collections of induced pluripotent stem cells (iPSCs) could serve as powerful model systems for examining how genetic variation affects biology and disease. Here we describe the iPSCORE resource: a collection of systematically ... ...

    Abstract Summary: Large-scale collections of induced pluripotent stem cells (iPSCs) could serve as powerful model systems for examining how genetic variation affects biology and disease. Here we describe the iPSCORE resource: a collection of systematically derived and characterized iPSC lines from 222 ethnically diverse individuals that allows for both familial and association-based genetic studies. iPSCORE lines are pluripotent with high genomic integrity (no or low numbers of somatic copy-number variants) as determined using high-throughput RNA-sequencing and genotyping arrays, respectively. Using iPSCs from a family of individuals, we show that iPSC-derived cardiomyocytes demonstrate gene expression patterns that cluster by genetic background, and can be used to examine variants associated with physiological and disease phenotypes. The iPSCORE collection contains representative individuals for risk and non-risk alleles for 95% of SNPs associated with human phenotypes through genome-wide association studies. Our study demonstrates the utility of iPSCORE for examining how genetic variants influence molecular and physiological traits in iPSCs and derived cell lines. : Working as part of the NHLBI NextGen consortium, Panopoulos and colleagues report the derivation and characterization of 222 publicly available iPSCs from ethnically diverse individuals with corresponding genomic data including SNP arrays, RNA-seq, and whole-genome sequencing. This collection provides a powerful resource to investigate the function of genetic variants. Keywords: iPSCORE, iPSC, GWAS, molecular traits, physiological traits, cardiac disease, NHLBI Next Gen, LQT2, KCNH2, iPSC-derived cardiomyocytes
    Keywords Medicine (General) ; R5-920 ; Biology (General) ; QH301-705.5
    Subject code 616
    Language English
    Publishing date 2017-04-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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