Isogenic induced pluripotent stem cells (IPSCS) derived from mosaic hereditary hemorrhagic telangiectasia type 1 (HHT1) patient

被引:0
|
作者
Orlova, V. V. [1 ]
Cao, X. [1 ]
Freund, C. [1 ]
Sanchez-Duffhues, G. [2 ]
Hawinkels, L. [3 ]
Petrus-Reurer, S. [1 ]
van den Hil, F. E. [1 ]
Disch, F. [4 ]
Snijder, R. J. [4 ]
Westermann, C. J. J. [4 ]
Mager, J. J. [4 ]
ten Dijke, P. [2 ]
van Amstel, Ploos J. K. [5 ]
Mummery, C. L. [1 ]
机构
[1] Leiden Univ, Med Ctr, Dept Anat & Embryol, Leiden, Netherlands
[2] Leiden Univ, Med Ctr, Dept Mol Cell Biol, Leiden, Netherlands
[3] Leiden Univ, Med Ctr, Dept Gastroenterol Hepatol, Leiden, Netherlands
[4] St Antonius Hosp, Nieuwegein, Netherlands
[5] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands
关键词
D O I
暂无
中图分类号
R6 [外科学];
学科分类号
1002 ; 100210 ;
摘要
引用
收藏
页码:129 / 129
页数:1
相关论文
共 50 条
  • [1] Modeling hereditary haemorrhagic telangiectasia (HHT) with patient specific induced pluripotent stem cells (IPSCS)
    Orlova, Valeria
    Freund, Christian
    van den Hil, Lisa
    Reurer, Petrus Sandra
    Hawinkels, Lukas
    Duffhues, Sanchez Gonzalo
    Disch, Frans
    Hans, Mager Jurgen
    Snijder, Repke
    Westermann, Kees
    ten Dijke, Peter
    Mummery, Christine
    ANGIOGENESIS, 2015, 18 (04) : 532 - 532
  • [2] Generation of an Isogenic Hereditary Hemorrhagic Telangiectasia Model via Prime Editing in Human Induced Pluripotent Stem Cells
    Kim, Min Woo
    Jeong, Kyu Sik
    Kim, Jin
    Lee, Seul-Gi
    Kim, C-Yoon
    Chung, Hyung Min
    INTERNATIONAL JOURNAL OF STEM CELLS, 2024,
  • [3] Endoglin involvement in integrin-mediated cell adhesion as a putative pathogenic mechanism in hereditary hemorrhagic telangiectasia type 1 (HHT1)
    Rossi, Elisa
    Lopez-Novoa, Jose M.
    Bernabeu, Carmelo
    FRONTIERS IN GENETICS, 2015, 5
  • [4] Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele
    Gariballa, Nesrin
    Badawi, Sally
    Ali, Bassam R.
    TRAFFIC, 2024, 25 (01)
  • [5] Vascular defects associated with hereditary hemorrhagic telangiectasia revealed in patient-derived isogenic iPSCs in 3D vessels on chip
    Orlova, Valeria V.
    Nahon, Dennis M.
    Cochrane, Amy
    Cao, Xu
    Freund, Christian
    van den Hil, Francijna
    Westermann, Cornelius J. J.
    Snijder, Repke J.
    van Amstel, Johannes Kristian Ploos
    Ten Dijke, Peter
    Lebrin, Franck
    Mager, Hans-Jurgen
    Mummery, Christine L.
    STEM CELL REPORTS, 2022, 17 (07): : 1536 - 1545
  • [6] Development of an in vitro model of hereditary tyrosinemia type 1 using patient-derived induced pluripotent stem cells
    Pham, Quang Toan
    M'Callum, Marie-Agnes
    Waters, Paula
    Halac, Ugur
    Mangahas, Chenicka-Lyn
    Raggi, Claudia
    Paganelli, Massimiliano
    HEPATOLOGY, 2017, 66 : 78A - 78A
  • [7] Development of an in vitro model of hereditary tyrosinemia type 1 using patient-derived induced pluripotent stem cells
    Pham, Q. T.
    M'Callum, M.
    Waters, P.
    Halac, U.
    Raad, S.
    Mangahas, C.
    Raggi, C.
    Paganelli, M.
    DIGESTIVE AND LIVER DISEASE, 2017, 49 (04) : E248 - E248
  • [8] Development of cellular models for studying pathogenetic mechanisms of arteriovenous malformation using induced pluripotent stem cells from a mouse model of hereditary hemorrhagic telangiectasia (HHT)
    Martin, Garrido Eva M.
    Lim, Chae-Ho
    Cunningham, Tyler
    Terada, Naohiro
    Lee, Young Jae
    Oh, S. Paul
    ANGIOGENESIS, 2013, 16 (01) : 268 - 269
  • [9] The ENG/VEGFα Pathway Is Likely Affected by a Nonsense Variant of Endoglin (ENG)/CD105, Causing Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) in a Chinese Family
    Liu, Kemeng
    Fu, Jiewen
    Guo, Kan
    Maghsoudloo, Mazaher
    Cheng, Jingliang
    Fu, Junjiang
    GENES, 2024, 15 (03)
  • [10] Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient
    Hauser, Stefan
    Erzler, Melanie
    Theurer, Yvonne
    Schuster, Stefanie
    Schuele, Rebecca
    Schoels, Ludger
    STEM CELL RESEARCH, 2016, 17 (03) : 485 - 488