ID   RG-233
AC   CVCL_B651
SY   SI-233; SC233; RGIe133-A
DR   hPSCreg; RGIe133-A
DR   SKIP; SKIP002232
DR   Wikidata; Q54950017
RX   PubMed=20541472;
WW   Info; NIHhESC; -; https://grants.nih.gov/stem_cells/registry/not_approved.htm
CC   From: Reproductive Genetics Institute; Chicago; USA.
CC   Registration: NIH Human Embryonic Stem Cell Registry; not approved.
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu7Val (c.20A>T) (E6V); ClinVar=VCV000015333; Zygosity=Homozygous (PubMed=20541472).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C34383; Sickle cell disease
DI   ORDO; Orphanet_232; Sickle cell anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 10-04-25; Version: 17
//
RX   PubMed=20541472; DOI=10.1016/j.rbmo.2010.04.017; PMCID=PMC3507446;
RA   Pryzhkova, Marina V.
RA   Peters, Ann
RA   Zambidis, Elias Thomas
RT   "Erythropoietic differentiation of a human embryonic stem cell line
RT   harbouring the sickle cell anaemia mutation.";
RL   Reprod. BioMed. Online 21:196-205(2010).
//