ID   CREM031i-SS47-1
AC   CVCL_JW52
SY   SS47-1; SS47
DR   SKIP; SKIP003098
DR   SKIP; SKIP003582
DR   WiCell; crem031i-ss47-1
DR   Wikidata; Q54814469
RX   PubMed=28111279;
WW   Provider; CReM; 625; https://stemcellbank.bu.edu/Catalog/Item/Details/625
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=crem031i-ss47-1).
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   42Y
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).
//