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  1. Article ; Online: Generation of a human iPSC line (IMEDEAi008-A) derived from natural homozygous CCR5-Δ32 PBMCs enriched in the pro-erythroblast population.

    Vallejo-Diez, Sara / Martín-Fernández, José María / Sánchez-Gilabert, Almudena / Fleischer, Aarne / Gayá, Antoni / Castresana, Mónica / Bachiller, Daniel

    Stem cell research

    2020  Volume 47, Page(s) 101918

    Abstract: A 32 base pair deletion in the C-C chemokine receptor type gene (CCR5-Δ32), the main Human Immunodeficiency Virus (HIV) co-receptor results in a non-functional protein. Individuals homozygous for the CCR5-Δ32 mutation are resistant to HIV infection. Here ...

    Abstract A 32 base pair deletion in the C-C chemokine receptor type gene (CCR5-Δ32), the main Human Immunodeficiency Virus (HIV) co-receptor results in a non-functional protein. Individuals homozygous for the CCR5-Δ32 mutation are resistant to HIV infection. Here we report the generation, from pro-erythroblast enriched Peripheral Blood Mononuclear Cells (PBMCs) from a naturally occurring CCR5-Δ32/Δ32 individual, of the fully characterized iPSC line IMEDEAi008-A. The new line has normal karyotype, carry the Δ32 mutation in homozygosity, is free of plasmid integrations, express high levels of pluripotency markers and can differentiate into all three germ layers.
    Language English
    Publishing date 2020-07-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2020.101918
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Generation of one iPSC line (IMEDEAi007-A) by Sendai Virus transduction of PBMCs from a Psoriasis donor.

    Vallejo-Diez, Sara / Fleischer, Aarne / María Martín-Fernández, José / Sánchez-Gilabert, Almudena / Gómez-Martínez, Carmelo / Castresana, Mónica / Bachiller, Daniel

    Stem cell research

    2020  Volume 47, Page(s) 101917

    Abstract: Psoriasis is a chronic inflammatory skin disease that speeds up the life cycle of skin cells, forming scales and red patches that are itchy and sometimes painful. It is a complex disease of autoimmune origin and genetic predisposition with more than 10 ... ...

    Abstract Psoriasis is a chronic inflammatory skin disease that speeds up the life cycle of skin cells, forming scales and red patches that are itchy and sometimes painful. It is a complex disease of autoimmune origin and genetic predisposition with more than 10 different loci associated. Here we described the production of an iPSC line generated by Sendai Virus (Klf4, Oct3/4, Sox2 and c-Myc) reprogramming of Peripheral Blood Mononuclear Cells (PBMCs) from a Psoriasis patient. The iPSC line generated has normal 46XY karyotype, is free of SeV genome and transgenes insertions, express high levels of pluripotency markers and can differentiate into all three germ layers.
    Language English
    Publishing date 2020-07-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 2393143-7
    ISSN 1876-7753 ; 1873-5061
    ISSN (online) 1876-7753
    ISSN 1873-5061
    DOI 10.1016/j.scr.2020.101917
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: iPSC-Derived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation.

    Fleischer, Aarne / Vallejo-Díez, Sara / Martín-Fernández, José María / Sánchez-Gilabert, Almudena / Castresana, Mónica / Del Pozo, Angel / Esquisabel, Amaia / Ávila, Silvia / Castrillo, José Luis / Gaínza, Eusebio / Pedraz, José Luis / Viñas, Miguel / Bachiller, Daniel

    Molecular therapy. Methods & clinical development

    2020  Volume 17, Page(s) 858–870

    Abstract: Cystic fibrosis (CF) is the main genetic cause of death among the Caucasian population. The disease is characterized by abnormal fluid and electrolyte mobility across secretory epithelia. The first manifestations occur within hours of birth (meconium ... ...

    Abstract Cystic fibrosis (CF) is the main genetic cause of death among the Caucasian population. The disease is characterized by abnormal fluid and electrolyte mobility across secretory epithelia. The first manifestations occur within hours of birth (meconium ileus), later extending to other organs, generally affecting the respiratory tract. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (
    Language English
    Publishing date 2020-04-18
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2872938-9
    ISSN 2329-0501 ; 2329-0501
    ISSN (online) 2329-0501
    ISSN 2329-0501
    DOI 10.1016/j.omtm.2020.04.005
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Generation of one iPSC line (IMEDEAi006-A) from an early-onset familial Alzheimer's Disease (fAD) patient carrying the E280A mutation in the PSEN1 gene.

    Vallejo-Diez, Sara / Fleischer, Aarne / Martín-Fernández, Jose María / Sánchez-Gilabert, Almudena / Castresana, Mónica / Aguillón, David / Villegas, Andrés / Mastronardi, Claudio A / Espinosa, Lady G / Arcos-Burgos, Mauricio / Del Pozo, Ángel / Herrán, Enara / Gainza, Eusebio / Isaza-Ruget, Mario / Lopera, Francisco / Bachiller, Daniel

    Stem cell research

    2019  Volume 37, Page(s) 101440

    Abstract: The mutation E280A in PSEN1 (presenilin-1) is the most common cause of early-onset familial Alzheimer's Disease (fAD). It presents autosomal dominant inheritance and frequently leads to the manifestation of the disease in relatively young individuals. ... ...

    Abstract The mutation E280A in PSEN1 (presenilin-1) is the most common cause of early-onset familial Alzheimer's Disease (fAD). It presents autosomal dominant inheritance and frequently leads to the manifestation of the disease in relatively young individuals. Here we report the generation of one PSEN1 E280A iPSC line derived from an early-onset patient. OriP/EBNA1-based episomal plasmids containing OCT3/4, SOX2, KLF4, L-MYC, LIN28, BCL-xL and shp53 were used to reprogram oral mucosa fibroblasts. The iPSC line generated has normal karyotype, carry the E280A mutation, is free of plasmid integration, express high levels of pluripotency markers and can differentiate into all three germ layers.
    MeSH term(s) Age of Onset ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Cell Differentiation ; Cells, Cultured ; Cellular Reprogramming ; Female ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Heterozygote ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Induced Pluripotent Stem Cells/pathology ; Middle Aged ; Mutation ; Phenotype ; Presenilin-1/genetics
    Chemical Substances PSEN1 protein, human ; Presenilin-1
    Language English
    Publishing date 2019-04-15
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1876-7753
    ISSN (online) 1876-7753
    DOI 10.1016/j.scr.2019.101440
    Database MEDical Literature Analysis and Retrieval System OnLINE

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