Christina Alamana

All Publications

• Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene. Stem cell research Zeng, W., Kong, X., Alamana, C., Liu, Y., Guzman, J., Pang, P. D., Day, J. W., Wu, J. C. 2023; 69: 103095

  Abstract

  Spinal muscular atrophy (SMA) is a severe neurodegenerative muscular disease caused by the homozygous loss of survival of motor neuron 1 (SMN1) genes. SMA patients exhibit marked skeletal muscle (SKM) loss, eventually leading to death. Here we generated two iPSC lines from two SMA type I patients with homozygous SMN1 mutations and validated the pluripotency and the ability to differentiate into three germ layers. The iPSC lines can be applied to generate skeletal muscles to model muscle atrophy of SMA that persists after treatment of motor neurons and will serve as a complementary platform for drug screening in vitro.

  View details for DOI 10.1016/j.scr.2023.103095

  View details for PubMedID 37087898

• Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying TTN mutations. Stem cell research Zhang, T. T., Zhao, S. R., Alamana, C., Shen, M., Parikh, V., Wheeler, M. T., Wu, J. C. 2022; 65: 102941

  Abstract

  Dilated cardiomyopathy (DCM) is a common heart disease that can lead to heart failure and sudden cardiac death. Mutations in the TTN gene are the most frequent cause of DCM. Here, we generated two human induced pluripotent stem cell (iPSC) lines from the peripheral blood mononuclear cells (PBMCs) of two DCM patients carrying c.94816C>T and c.104188A>G mutations in TTN, respectively. The two lines exhibited a normal morphology, full expression of pluripotency markers, a normal karyotype and the ability of trilineage differentiation. The two lines can serve as useful tools for drug screening and mechanism studies on DCM.

  View details for DOI 10.1016/j.scr.2022.102941

  View details for PubMedID 36270069

• Cellular and Engineered Organoids for Cardiovascular Models. Circulation research Thomas, D., Choi, S., Alamana, C., Parker, K. K., Wu, J. C. 2022; 130 (12): 1780-1802

  Abstract

  An ensemble of in vitro cardiac tissue models has been developed over the past several decades to aid our understanding of complex cardiovascular disorders using a reductionist approach. These approaches often rely on recapitulating single or multiple clinically relevant end points in a dish indicative of the cardiac pathophysiology. The possibility to generate disease-relevant and patient-specific human induced pluripotent stem cells has further leveraged the utility of the cardiac models as screening tools at a large scale. To elucidate biological mechanisms in the cardiac models, it is critical to integrate physiological cues in form of biochemical, biophysical, and electromechanical stimuli to achieve desired tissue-like maturity for a robust phenotyping. Here, we review the latest advances in the directed stem cell differentiation approaches to derive a wide gamut of cardiovascular cell types, to allow customization in cardiac model systems, and to study diseased states in multiple cell types. We also highlight the recent progress in the development of several cardiovascular models, such as cardiac organoids, microtissues, engineered heart tissues, and microphysiological systems. We further expand our discussion on defining the context of use for the selection of currently available cardiac tissue models. Last, we discuss the limitations and challenges with the current state-of-the-art cardiac models and highlight future directions.

  View details for DOI 10.1161/CIRCRESAHA.122.320305

  View details for PubMedID 35679369