Transcriptomic characterization of 7q11.23 patient-specific induced pluripotent stem cells (iPSCs) and derivates

被引：0
|
作者：
Costa-Roger, Mar [1 ,2 ]
Kuebler, Bernd [3 ,4 ]
Alvarez-Estape, Marina [1 ,2 ]
Flores, Raquel [1 ,2 ]
Alberto Perez-Jurado, Luis [1 ,2 ,5 ]
Cusco, Ivon [1 ,2 ,6 ,7 ]
Corominas, Roser [1 ,2 ,8 ]
机构：
[1] Pompeu Fabra Univ, Hosp del Mar Res Inst IMIM, Dept Ciencies Expt & Salut, Genet Unit,Parc Salut Mar, Barcelona, Spain
[2] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain
[3] IDIBELL, Inst Invest Biomed Bellvitge, Regenerat Med Programme, Lhospital De Llobregat, Spain
[4] Inst Salud Carlos III ISCIII, Spanish Natl Stem Cell Bank Barcelona Node, Madrid, Spain
[5] Parc Salut Mar, Genet Serv, Barcelona, Spain
[6] Univ Hosp Vall dHebron, VHIR, Dept Clin & Mol Genet, Barcelona, Spain
[7] Univ Hosp Vall dHebron, VHIR, Med Genet Grp, Barcelona, Spain
[8] Barcelona Univ, Dept Genet Microbiol & Stat, Barcelona, Spain
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期
基金：
欧盟地平线“2020”;
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P09.003.D
引用
收藏
页码：260 / 260
页数：1
相关论文
共 50 条
  • [1] Patient-specific induced pluripotent stem cells (iPSCs) to model metachromatic leukodystrophy
    Frati, G.
    Luciani, M.
    Meneghini, V.
    Cavazzin, C.
    De Cicco, S.
    Lombardo, A.
    Paulis, M.
    Morena, F.
    Sanvito, F.
    Villa, A.
    Stahlman, M.
    Blomqvist, M.
    Martino, S.
    Gritti, A.
    HUMAN GENE THERAPY, 2016, 27 (11) : A81 - A81
  • [2] Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome
    Kuebler, B.
    Aran, B.
    Flores, R.
    Perez-Jurado, L. A.
    Veiga, A.
    Cusco, I
    Corominas, R.
    STEM CELL RESEARCH, 2020, 49
  • [3] Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases
    Wiley, Luke A.
    Burnight, Erin R.
    Songstad, Allison E.
    Drack, Arlene V.
    Mullins, Robert F.
    Stone, Edwin M.
    Tucker, Budd A.
    PROGRESS IN RETINAL AND EYE RESEARCH, 2015, 44 : 15 - 35
  • [4] Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion)
    Kuebler, B.
    Aran, B.
    Flores, R.
    Perez-Jurado, L. A.
    Veiga, A.
    Corominas, R.
    Cusco, I
    STEM CELL RESEARCH, 2020, 49
  • [5] Patient-specific induced pluripotent stem cells (iPSCs) to model disease pathology in metachromatic leukodystrophy.
    Meneghini, V.
    Frati, G.
    Cavazzin, C.
    Lombardo, A.
    Naldini, L.
    Gritti, A.
    HUMAN GENE THERAPY, 2012, 23 (10) : A89 - A89
  • [6] Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome
    Sripathy, S. R.
    Wang, Y.
    Moses, R. L.
    Fatemi, A.
    Batista, D. A.
    Maher, B. J.
    STEM CELL RESEARCH, 2020, 48
  • [7] Patient-Specific Induced Pluripotent Stem Cells in Hurler Syndrome
    Tolar, Jakub
    Park, In-Hyun
    Xia, Lily
    Osborn, Mark
    McElmurry, Ron T.
    Orchard, Paul J.
    Daley, George Q.
    Blazar, Bruce R.
    BLOOD, 2008, 112 (11) : 149 - 149
  • [8] The Use of Patient-Specific Induced Pluripotent Stem Cells (iPSCs) to Identify Osteoclast Defects in Rare Genetic Bone Disorders
    Chen, I-Ping
    JOURNAL OF CLINICAL MEDICINE, 2014, 3 (04): : 1490 - 1510
  • [9] Cohort Generation and Characterization of Patient-Specific Familial Hypercholesterolemia-Induced Pluripotent Stem Cells
    Omer, Linda
    Hudson, Elizabeth A.
    Hudgins, Lisa C.
    Boyd, Nolan L.
    STEM CELLS AND DEVELOPMENT, 2021, 30 (12) : 632 - 640
  • [10] Patient-specific pluripotent stem cells: promises and challenges
    Mueller, Rouven
    Lengerke, Claudia
    NATURE REVIEWS ENDOCRINOLOGY, 2009, 5 (04) : 195 - 203
12345