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

Stem Cell Research (Aug 2020)

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

Affiliations

Jenny Serra-Vinardell: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Maxwell B. Sandler: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Evgenia Pak: Cytogenetics Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Wei Zheng: National Center for Advancing Translational Science, NIH, Rockville, MD 20850, USA
Amalia Dutra: Cytogenetics Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Wendy Introne: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
William A. Gahl: 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
May Christine Malicdan: 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; Corresponding author.

Journal volume & issue: Vol. 47
p. 101883

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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