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

doi:10.1016/j.scr.2022.102979

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 Res. 2022 Dec:65:102979. doi: 10.1016/j.scr.2022.102979. Epub 2022 Nov 18.

Authors

Wasinee Wongkummool¹, Pirut Tong-Ngam², Thongperm Munkongdee³, Amornrat Tangprasittipap⁴, Kittiphong Paiboonsukwong³, Suradej Hongeng⁵, Suthat Fucharoen³, Pimlak Charoenkwan⁶, Alisa Tubsuwan⁷

Affiliations

¹ Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
² Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
³ Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
⁴ Office of Research, Academic Affairs and Innovations, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
⁵ Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
⁶ Department of Pediatrics, Chiang Mai University, Chiang Mai 50200, Thailand; Thalassemia and Hematology Center, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
⁷ Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand. Electronic address: alisa.tub@mahidol.ac.th.

PMID: 36427475
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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Anemia*
Humans
Induced Pluripotent Stem Cells*

Substances

Hemoglobin Constant Spring