Journal
STEM CELL RESEARCH
Volume 47, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2020.101883
Keywords
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Funding
- Intramural Research Program of National Human Genome Research Institute, National Institutes of Health
- Intramural Research Program of National Center for Advancing Translational Sciences, National Institutes of Health
- NIH Common Fund Program of the Office of the Director, National Institutes of Health
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [ZIAHG000215, ZICHG200348] Funding Source: NIH RePORTER
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Chediak-Higashi Syndrome (CHS) is a lysosome-related organelle (LRO) disorder caused by biallelic mutations in the lysosomal trafficking regulator gene, LYST. The clinical features of CHS include oculocutaneous albinism, primary immunodeficiency, bleeding diathesis, risk for development of hemophagocytic lymphohistiocytosis, and progressive neurological problems. The pathophysiological mechanisms underlying this disease are unknown, so developing therapeutic options remains challenging. In this study, four induced pluripotent stem (iPSC) lines from unrelated CHS patients have been generated and successfully characterized for exploring the role of LYST in health and disease in diverse cell types.
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