The Holt-Oram Syndrome (HOS) is assigned to the heart-hand syndromes and has a high incidence for congenital heart disease. Mutations in the transcription factor TBX5 are described in more than 70% of the HOS patients as causative for the syndrome. To identify an in vito phenotype for the HOS and to investigate the role of TBX5 in human cardiac development, a patient-specific induced pluripotent stem cell model (iPS model) for the HOS was generated. Beside other cardiac relevant factors, TBX5 was investigated in a spontaneous and direct cardiac differentiation protocol. Using CRISPR/Cas9, TBX5-Flag edited iPS cells were generated to indirectly detect the TBX5 protein.      «

The Holt-Oram Syndrome (HOS) is assigned to the heart-hand syndromes and has a high incidence for congenital heart disease. Mutations in the transcription factor TBX5 are described in more than 70% of the HOS patients as causative for the syndrome. To identify an in vito phenotype for the HOS and to investigate the role of TBX5 in human cardiac development, a patient-specific induced pluripotent stem cell model (iPS model) for the HOS was generated. Beside other cardiac relevant factors, TBX5 wa...     »