ID   chHES-415
AC   CVCL_AB80
DR   Wikidata; Q54811998
RX   PubMed=27345785;
CC   From: National Engineering and Research Center of Human Stem Cells; Changsha; China.
CC   Sequence variation: Mutation; HGNC; HGNC:4057; G6PD; Simple; p.Arg459Leu (c.1376G>T); ClinVar=VCV000100058; Zygosity=Heterozygous (PubMed=27345785).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
DI   NCIt; C98933; Glucose-6-phosphate dehydrogenase deficiency
DI   ORDO; Orphanet_466026; Class I glucose-6-phosphate dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
//
RX   PubMed=27345785; DOI=10.1016/j.scr.2015.12.001;
RA   Zhou H., Zhou X.-Y., Yang Q.-Q., Li L., Du J., Lu G.-X., Lin G.,
RA   Ouyang Q.;
RT   "Human embryonic stem cells derived from abnormal blastocyst donated
RT   by glucose-6-phosphate dehydrogenase deficiency patient.";
RL   Stem Cell Res. 16:59-62(2016).
//