Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines

Jenny Serra-Vinardell; Maxwell B Sandler; Evgenia Pak; Wei Zheng; Amalia Dutra; Wendy Introne; William A Gahl; May Christine Malicdan

doi:10.1016/j.scr.2020.101883

Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines

Stem Cell Res. 2020 Jun 22:47:101883. doi: 10.1016/j.scr.2020.101883. Online ahead of print.

Authors

Jenny Serra-Vinardell¹, Maxwell B Sandler¹, Evgenia Pak², Wei Zheng³, Amalia Dutra², Wendy Introne¹, William A Gahl⁴, May Christine Malicdan⁵

Affiliations

¹ Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
² Cytogenetics Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
³ National Center for Advancing Translational Science, NIH, Rockville, MD 20850, USA.
⁴ Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA.
⁵ Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA. Electronic address: malicdanm@mail.nih.gov.

PMID: 32619719
DOI: 10.1016/j.scr.2020.101883

Abstract

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 hemophagocyticlymphohistiocytosis,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 diversecell types.