{Reference Type}: Case Reports
{Title}: Generation of human induced pluripotent stem cell line (MUi034-A) from an unusual case of hydrops fetalis associated with homozygous hemoglobin Constant Spring.
{Author}: Wongkummool W;Tong-Ngam P;Munkongdee T;Tangprasittipap A;Paiboonsukwong K;Hongeng S;Fucharoen S;Charoenkwan P;Tubsuwan A;
{Journal}: Stem Cell Res
{Volume}: 65
{Issue}: 0
{Year}: 12 2022
{Factor}: 1.587
{DOI}: 10.1016/j.scr.2022.102979
{Abstract}: Hemoglobin Constant Spring (HbCS) is unstable hemoglobin resulting from a nucleotide substitution at the termination codon of the HBA2 gene (c.427 T > C). The homozygous state for HbCS is non-transfusion dependent in adults. Nevertheless, severe anemia is often observed in fetuses. Here, human induced pluripotent stem cell line MUi034-A was generated from peripheral blood CD34+ hematopoietic stem/progenitor cells (HSPCs) derived from a 14-year-old female with homozygous HbCS who had a history of severe anemia and hydrops during fetal period. The MUi034-A cell line represented embryonic-like characteristics as they expressed specific pluripotency markers, differentiated into the three germ layers, and retained normal karyotyping.