Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.

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第一作者： Laura Machado Lara,Carvalho

第一单位： Human Genome and Stem Cell Research Center, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.

作者： Laura Machado Lara,Carvalho ^[1] ; Elisa Varella,Branco ^[1] ; Raquel Delgado,Sarafian ^[2] ; Gerson Shigeru,Kobayashi ^[1] ; Fabiano Tófoli,de Araújo ^[2] ; Lucas,Santos Souza ^[1] ; Danielle de Paula,Moreira ^[1] ; Gabriella Shih Ping,Hsia ^[1] ; Eny Maria Goloni,Bertollo ^[3] ; Cecília Barbosa,Buck ^[4] ; Silvia Souza,da Costa ^[1] ; Davi Mendes,Fialho ^[1] ; Felipe Tadeu Galante Rocha,de Vasconcelos ^[1] ; Luciano Abreu,Brito ^[1] ; Luciana Elena,de Souza Fraga Machado ^[1] ; Igor Cabreira,Ramos ^[1] ; Lygia da Veiga,Pereira ^[2] ; Celia Priszkulnik,Koiffmann ^[1] ; Maria Rita Dos Santos,E Passos-Bueno ^[1] ; Tiago Antonio de,Oliveira Mendes ^[5] ; Ana Cristina Victorino,Krepischi ^[1] ; Carla,Rosenberg ^[6]

作者单位： Human Genome and Stem Cell Research Center, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil. ^[1] National Embryonic Stem Cell Laboratory Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil. ^[2] Faculty of Medicine of São José do Rio Preto, São José do Rio Preto, SP, Brazil. ^[3] Anhembi Morumbi University, Piracibaba, SP, Brazil. ^[4] Department of Biochemistry and Molecular Biology, Viçosa Federal University, Viçosa, MG, Brazil. ^[5] Human Genome and Stem Cell Research Center, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil. Electronic address: carlarosenberg@ib.usp.br. ^[6]

关键词 AHDC1 CRISPR–Cas9 Neurodevelopment Xia-Gibbs syndrome Zebrafish iPSC

主题词动物(Animals);诱导多能干细胞(Induced Pluripotent Stem Cells);斑马鱼(Zebrafish);白细胞, 单核(Leukocytes, Mononuclear);畸形, 多发性(Abnormalities, Multiple);细胞分化(Cell Differentiation);综合征(Syndrome)

DOI 10.1016/j.gene.2023.147424

PMID 37054903

发布时间 2023-05-22

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