Stem Cell Research (Dec 2022)

Generation of human induced pluripotent stem cell line (MUi034-A) from an unusual case of hydrops fetalis associated with homozygous hemoglobin Constant Spring

  • Wasinee Wongkummool,
  • Pirut Tong-ngam,
  • Thongperm Munkongdee,
  • Amornrat Tangprasittipap,
  • Kittiphong Paiboonsukwong,
  • Suradej Hongeng,
  • Suthat Fucharoen,
  • Pimlak Charoenkwan,
  • Alisa Tubsuwan

Journal volume & issue
Vol. 65
p. 102979

Abstract

Read online

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.