ID   MUi034-A
AC   CVCL_B7E8
SY   homoHbCS iPSC; MU018.C11
DR   BioSamples; SAMEA111396563
DR   hPSCreg; MUi034-A
DR   Wikidata; Q112930143
RX   PubMed=36427475;
CC   From: Mahidol University; Bangkok; Thailand.
CC   Population: Southeast Asian; Thai.
CC   Sequence variation: Mutation; HGNC; 4824; HBA2; Simple; p.Ter143Glnext*32 (c.427T>C); ClinVar=VCV000015624; Zygosity=Homozygous; Note=Hb Constant Spring (PubMed=36427475).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84767; Hydrops fetalis
DI   NCIt; C61229; Severe aplastic anemia
DI   ORDO; Orphanet_1041; Hydrops fetalis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=36427475; DOI=10.1016/j.scr.2022.102979;
RA   Wongkummool W., Tong-Ngam P., Munkongdee T., Tangprasittipap A.,
RA   Paiboonsukwong K., Hongeng S., Fucharoen S., Charoenkwan P.,
RA   Tubsuwan A.;
RT   "Generation of human induced pluripotent stem cell line (MUi034-A)
RT   from an unusual case of hydrops fetalis associated with homozygous
RT   hemoglobin Constant Spring.";
RL   Stem Cell Res. 65:102979-102979(2022).
//