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Title:

Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome.

Document type:
Journal Article; Research Support, Non-U.S. Gov't; Article
Author(s):
Bellin, Milena; Casini, Simona; Davis, Richard P; D'Aniello, Cristina; Haas, Jessica; Ward-van Oostwaard, Dorien; Tertoolen, Leon G J; Jung, Christian B; Elliott, David A; Welling, Andrea; Laugwitz, Karl-Ludwig; Moretti, Alessandra; Mummery, Christine L
Abstract:
Patient-specific induced pluripotent stem cells (iPSCs) will assist research on genetic cardiac maladies if the disease phenotype is recapitulated in vitro. However, genetic background variations may confound disease traits, especially for disorders with incomplete penetrance, such as long-QT syndromes (LQTS). To study the LQT2-associated c.A2987T (N996I) KCNH2 mutation under genetically defined conditions, we derived iPSCs from a patient carrying this mutation and corrected it. Furthermore, we...     »
Journal title abbreviation:
EMBO J
Year:
2013
Journal volume:
32
Journal issue:
24
Pages contribution:
3161-75
Language:
eng
Fulltext / DOI:
doi:10.1038/emboj.2013.240
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/24213244
Print-ISSN:
0261-4189
TUM Institution:
I. Medizinische Klinik und Poliklinik (Kardiologie); Institut für Pharmakologie und Toxikologie
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