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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 CD34hematopoietic 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. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Citation

Wasinee Wongkummool, Pirut Tong-Ngam, Thongperm Munkongdee, Amornrat Tangprasittipap, Kittiphong Paiboonsukwong, Suradej Hongeng, Suthat Fucharoen, Pimlak Charoenkwan, Alisa Tubsuwan. Generation of human induced pluripotent stem cell line (MUi034-A) from an unusual case of hydrops fetalis associated with homozygous hemoglobin Constant Spring. Stem cell research. 2022 Dec;65:102979

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PMID: 36427475

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