ID   MUi033-A
AC   CVCL_B7E7
SY   020HbE
DR   BioSamples; SAMEA114240245
DR   hPSCreg; MUi033-A
DR   Wikidata; Q112930142
RX   PubMed=37890329;
CC   From: Mahidol University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; HGNC:4827; HBB; Simple; p.Glu27Lys (c.79G>A) (E26K); ClinVar=VCV000015161; Zygosity=Homozygous; Note=Hb E (PubMed=37890329).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34375; Beta thalassemia
DI   ORDO; Orphanet_231214; Beta-thalassemia major
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=37890329; DOI=10.1016/j.scr.2023.103228;
RA   Tong-Ngam P., Wongkummool W., Pongpaksupasin P., Rawara N.,
RA   Kovanich D., Kitiyanant N., Munkongdee T., Paiboonsukwong K.,
RA   Fucharoen S., Tubsuwan A.;
RT   "Generation of human induced pluripotent stem cell line (MUi033-A)
RT   from a male with homozygous for hemoglobin E.";
RL   Stem Cell Res. 73:103228-103228(2023).
//