ID   ssHUDEP2
AC   CVCL_YT59
DR   Wikidata; Q98132831
RX   DOI=10.1182/blood-2019-127330;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 4827; HBB; Simple_edited; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Homozygous; Note=By CRISPR/Cas9 (DOI=10.1182/blood-2019-127330).
CC   Derived from sampling site: Umbilical cord blood.
DI   NCIt; C34383; Sickle cell disease
DI   ORDO; Orphanet_232; Sickle cell anemia
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_VI06 ! HUDEP-2
SX   Sex unspecified
AG   <1D
CA   Transformed cell line
DT   Created: 12-03-20; Last updated: 20-05-21; Version: 5
//
RX   DOI=10.1182/blood-2019-127330;
RA   Gupta D., Sturtevant S., Vieira B., Nakamura Y., Krishnamoorthy S.,
RA   Demers M.;
RT   "Characterization of a genetically engineered HUDEP2 cell line
RT   harboring a sickle cell disease mutation as a potential research tool
RT   for preclinical sickle cell disease drug discovery.";
RL   Blood 134 Suppl. 1:3559a-3559a(2019).
//