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

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

    Stem Cell Research, Vol 47, Iss , Pp 101917- (2020)

    2020  

    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.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2020-08-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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

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

    Stem Cell Research, Vol 47, Iss , Pp 101918- (2020)

    2020  

    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.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2020-08-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Generation of two induced pluripotent stem cells lines from a Mucopolysaccharydosis IIIB (MPSIIIB) patient

    Sara Vallejo-Diez / Aarne Fleischer / José María Martín-Fernández / Almudena Sánchez-Gilabert / Daniel Bachiller

    Stem Cell Research, Vol 33, Iss , Pp 180-

    2018  Volume 184

    Abstract: Mucopolysaccharydosis IIIB is the second most frequent form of Sanfilippo syndrome, a degenerative, pediatric lysosomal storage disease (LSD) characterized by severe neurological disorders and death. We have generated two iPSCs lines derived from dermal ... ...

    Abstract Mucopolysaccharydosis IIIB is the second most frequent form of Sanfilippo syndrome, a degenerative, pediatric lysosomal storage disease (LSD) characterized by severe neurological disorders and death. We have generated two iPSCs lines derived from dermal fibroblast from a MPSIIIB homozygous (P358L) donor. Cells were reprogrammed with OriP/EBNA1-based episomal plasmids containing: OCT3/4, SOX2, KLF4, L-MYC, LIN28, BCL-xL and shp53. Both cell lines are homozygous for the P358L mutation of the α-N-acetylglucosaminidase (NAGLU) gene, have normal karyotype, are free of plasmid integration, express high levels of pluripotency-associated markers and can differentiate into the three germ layers. Resource table: Unlabelled TableUnique stem cell lines identifierIMEDEAi005-AIMEDEAi005-BAlternative names of stem cell linesiPS GM02931 CL2 (IMEDEAi005-A)iPS GM02931 CL3 (IMEDEAi005-B)InstitutionIMEDEA - Instituto Mediterráneo de Estudios AvanzadosContact information of distributorDaniel Bachiller; d.b@csic.esType of cell linesiPSCsOriginHumanCell SourceOriginal cell type: GM02931 Fibroblast from the Coriell InstituteClonalityClonal cell linesMethod of reprogrammingEpisomal Plasmids (Klf4, Sox2, Oct4, shp53, L-Myc, Lin28, Bcl-xL)Multiline rationaleSame disease, isogenic cell linesGene modificationNOType of modificationN/AAssociated diseaseMucopolysaccharidosis, Type IIIB; MPS3B(MPS IIIB; OMIM entry # 252920)Gene/locusNAGLU 17q21.2Method of modificationN/AName of transgene or resistanceN/AInducible/constitutive systemN/ADate archived/stock date26/09/2018Cell line repository/bankRegistered in the Human Pluripotent Stem Cell Registry (https://hpscreg.eu).Ethical approvalOriginal line (GM02931 Fibroblast) has been obtained by Coriell Institute for Medical Research. Regarding policy of informed consent form, the Coriell Institute for Medical Research, which operates the NIGMS Human Genetic Cell Repository, has obtained a Certificate of Confidentiality from the National Institutes of Health to help ensure patient's privacy. Resource ...
    Keywords Biology (General) ; QH301-705.5
    Subject code 572
    Language English
    Publishing date 2018-12-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Generation of two induced pluripotent stem cell (iPSC) lines from p.F508del Cystic Fibrosis patients

    Aarne Fleischer / Iván M. Lorenzo / Esther Palomino / Trond Aasen / Fernando Gómez / Miguel Servera / Víctor J. Asensio / Víctor Gálvez / Juan Carlos Izpisúa-Belmonte / Daniel Bachiller

    Stem Cell Research, Vol 29, Iss , Pp 1-

    2018  Volume 5

    Abstract: Cystic Fibrosis (CF) is a monogenic, lethal disease caused by mutations in the cystic fibrosis transmembrane conductance (CFTR) gene. Here we report the production of CF-iPS cell lines from two different p.F508del homozygous female patients (Table 1). ... ...

    Abstract Cystic Fibrosis (CF) is a monogenic, lethal disease caused by mutations in the cystic fibrosis transmembrane conductance (CFTR) gene. Here we report the production of CF-iPS cell lines from two different p.F508del homozygous female patients (Table 1). Two different primary cell types, skin fibroblasts and keratinocytes, were transfected with retroviral cocktails containing four: c-MYC, KLF4, OCT4 and SOX2 (MKOS) or three: KLF4, OCT4 and SOX2 (KOS) reprogramming factors. Two fibroblast-derived MKOS lines are described in the main text. The lines carry the p.F508del mutation, have a normal karyotype, express pluripotency markers and are able to differentiate into the three germ layers.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2018-05-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: 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

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

    Stem Cell Research, Vol 37, Iss , Pp - (2019)

    2019  

    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.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2019-05-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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