ID   CREM037i-SA53-1
AC   CVCL_JW58
SY   SA53-1; SA53
DR   SKIP; SKIP003104
DR   SKIP; SKIP003588
DR   WiCell; crem037i-sa53-1
DR   Wikidata; Q54814475
RX   PubMed=28111279;
WW   Provider; CReM; 631; https://stemcellbank.bu.edu/Catalog/Item/Details/631
CC   Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
CC   From: Center for Regenerative Medicine; Boston; USA.
CC   Population: Arab; Saudi Arabian.
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Homozygous (WiCell=crem037i-sa53-1).
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   Male
AG   14Y
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 S., Gianotti-Sommer A., Molina-Estevez F.J., Vanuytsel K.,
RA   Skvir N.J., Leung A., Rozelle S.S., Shaikho E.M., Weir I., Jiang Z.-H.,
RA   Luo H.-Y., Chui D.H.K., Figueiredo M.S., Alsultan A., Al-Ali A.,
RA   Sebastiani P., Steinberg M.H., Mostoslavsky G., Murphy G.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).
//