• Seonmi Park, Andreia Gianotti-Sommer, Francisco Javier Molina-Estevez, Kim Vanuytsel, Nick Skvir, Amy Leung, Sarah S Rozelle, Elmutaz Mohammed Shaikho, Isabelle Weir, Zhihua Jiang, Hong-Yuan Luo, ChuiDavid H KDHKSection of Hematology-Oncology, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA; Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, MA 02118, USA., Maria Stella Figueiredo, Abdulraham Alsultan, Amein Al-Ali, Paola Sebastiani, Martin H Steinberg, Gustavo Mostoslavsky, and George J Murphy.
• Department of Medicine, Center for Regenerative Medicine (CReM), Boston University School of Medicine, 670 Albany Street, 2nd Floor, Boston, MA 02118, USA; Section of Gastroenterology, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA.
• Stem Cell Reports. 2017 Apr 11; 8 (4): 1076-1085.

AbstractSickle cell anemia affects millions of people worldwide and is an emerging global health burden. As part of a large NIH-funded NextGen Consortium, we generated a diverse, comprehensive, and fully characterized library of sickle-cell-disease-specific induced pluripotent stem cells (iPSCs) from patients of different ethnicities, β-globin gene (HBB) haplotypes, and fetal hemoglobin (HbF) levels. iPSCs stand to revolutionize the way we study human development, model disease, and perhaps eventually, treat patients. Here, we describe this unique resource for the study of sickle cell disease, including novel haplotype-specific polymorphisms that affect disease severity, as well as for the development of patient-specific therapeutics for this phenotypically diverse disorder. As a complement to this library, and as proof of principle for future cell- and gene-based therapies, we also designed and employed CRISPR/Cas gene editing tools to correct the sickle hemoglobin (HbS) mutation.Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

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