conklin lab
cardiovascular disease
LQT3 iPSC Line (Coriell Cat. # GM25267)
This iPSC line was derived from a skin biopsy from a Hispanic female donor with a known N406K point mutation (SCN5A 1219 C>A) associated with Long QT Syndrome, Type 3. An EKG reveals QT prolongation in iPSC-cardiomyocytes derived from this line. The original patient fibroblasts were reprogrammed using retroviral methods with factors: KLF4, MYC (c-MYC), POU5F1 (OCT4), and SOX2. The iPSC line has a normal karyotype (46 XX). Immunostaining and RT-PCR was carried out to confirm reprogramming to the pluripotent state. Its pluripotency and differentiation potential was characterized using teratoma formation, embryoid formation, and cardiomyocyte differentiation.
Publications:
Three-dimensional filamentous human diseased cardiac tissue model. Zhen Ma, Sangmoo Koo, Micaela A. Finnegan, Peter Loskill, Nathaniel Huebsch, Natalie C. Marks, Bruce R. Conklin, Costas P. Grigoropoulos, and Kevin E. Healy. Biomaterials. 2014 Feb;35(5):1367-77. PMID: 24268663
