ID CREM030i-SS45-1 AC CVCL_JW51 SY SS45-1; SS45 DR SKIP; SKIP003097 DR SKIP; SKIP003581 DR WiCell; crem030i-ss45-1 DR Wikidata; Q54814468 RX PubMed=28111279; WW Provider; CReM; 624; https://stemcellbank.bu.edu/Catalog/Item/Details/624 CC Part of: Next Generation Genetic Association studies (Next Gen) program cell lines. CC From: Center for Regenerative Medicine; Boston; USA. CC Population: African American. CC Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Homozygous (WiCell=crem030i-ss45-1). CC Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. DI NCIt; C34383; Sickle cell disease DI ORDO; Orphanet_232; Sickle cell anemia OX NCBI_TaxID=9606; ! Homo sapiens (Human) SX Female AG 37Y CA Induced pluripotent stem cell DT Created: 22-08-17; Last updated: 10-04-25; Version: 16 // RX PubMed=28111279; DOI=10.1016/j.stemcr.2016.12.017; PMCID=PMC5390092; RA Park, Seonmi RA Gianotti-Sommer, Andreia RA Molina-Estevez, Francisco Javier RA Vanuytsel, Kim RA Skvir, Nicholas J. RA Leung, Amy RA Rozelle, Sarah S. RA Shaikho, Elmutaz Mohammed RA Weir, Isabelle RA Jiang, Zhi-Hua RA Luo, Hong-Yuan RA Chui, David H.K. RA Figueiredo, Maria Stella RA Alsultan, Abdulraham RA Al-Ali, Amein RA Sebastiani, Paola RA Steinberg, Martin H. RA Mostoslavsky, Gustavo RA Murphy, George J. RT "A comprehensive, ethnically diverse library of sickle cell RT disease-specific induced pluripotent stem cells."; RL Stem Cell Reports 8:1076-1085(2017). //