Generation, establishment and characterization of a pluripotent stem cell line (CVTTHi001-A) from primary fibroblasts isolated from a patient with activated PI3 kinase delta syndrome (APDS2)

Generation, establishment and characterization of a pluripotent stem cell line (CVTTHi001-A) from primary fibroblasts isolated from a patient with activated PI3 kinase delta syndrome (APDS2)

APDS2 is caused by mutations in PIK3R1 gene resulting in constitutive PI3Kδ activation. PI3Kδ is predominantly expressed in leukocytes and plays critical roles in regulating immune responses. Here we first derived fibroblast primary cells from a skin biopsy of a patient carrying a heterozygous singl...

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Bibliographic Details
Main Authors: M. Inglés-Ferrándiz, M. Martin-Inaraja, L. Herrera, M. Villaverde, S. Santos, M.A. Vesga, E. Garreta, I. Martín-Ruiz, A.M. Aransay, J. Anguita, B. Barreña, L.M. Allende, L.I. Gonzalez-Granado, C. Eguizabal
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120303834

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http://www.sciencedirect.com/science/article/pii/S1873506120303834

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