A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells.

Abstract	Sickle 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.
Authors	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, David H K Chui, Maria Stella Figueiredo, Abdulraham Alsultan, Amein Al-Ali, Paola Sebastiani, Martin H Steinberg, Gustavo Mostoslavsky, George J Murphy
Journal	Stem cell reports (Stem Cell Reports) Vol. 8 Issue 4 Pg. 1076-1085 (04 11 2017) ISSN: 2213-6711 [Electronic] United States
PMID	28111279 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural)
Copyright	Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.
Chemical References	Hemoglobin, Sickle beta-Globins Fetal Hemoglobin
Topics	Adolescent Adult Anemia, Sickle Cell (blood, ethnology, genetics, therapy) Base Sequence CRISPR-Cas Systems Cell Line Cells, Cultured Child Child, Preschool Erythroid Cells (cytology, metabolism) Female Fetal Hemoglobin (analysis) Genetic Therapy (methods) Haplotypes Hemoglobin, Sickle (genetics) Humans Induced Pluripotent Stem Cells (cytology, metabolism) Male Middle Aged Point Mutation Polymorphism, Genetic Transcriptome Young Adult beta-Globins (genetics)

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