title: Derivation of the human induced pluripotent stem cell line MUi017-A from a patient with homozygous Hemoglobin Constant Spring.
abstract: Hemoglobin Constant Spring (HbCS, HBA2: c.427T>C) is a common nondeletional α-thalassemia resulting from a nucleotide substitution at the termination codon of the HBA2 gene. Homozygosity for HbCS is characterized with mild anemia, jaundice, and splenomegaly. In this study, the human induced pluripotent stem cell line MUi017-A was successfully generated from peripheral blood CD34+ hematopoietic progenitors of a 52year old female with homozygous HbCS. The MUi017-A cell line exhibited embryonic stem cell characteristics with consistent expression of specific pluripotency markers and the capability of differentiating into the three germ layers. The cell line may be used for the disease modeling.
authors.affiliation: Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
authors.forename: Wasinee
authors.initials: W
authors.lastname: Wongkummool
authors.affiliation: Molecular Medicine Program, Multidisciplinary Unit, Faculty of Science, Mahidol University, 10400, Thailand.
authors.forename: Warun
authors.initials: W
authors.lastname: Maneepitasut
authors.affiliation: Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
authors.forename: Thongperm
authors.initials: T
authors.lastname: Munkongdee
authors.affiliation: Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
authors.forename: Pirut
authors.initials: P
authors.lastname: Tong-Ngam
authors.affiliation: Office of Research, Academic Affairs and Innovations, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
authors.forename: Amornrat
authors.initials: A
authors.lastname: Tangprasittipap
authors.affiliation: Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand; Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok 10400, Thailand.
authors.forename: Saovaros
authors.initials: S
authors.lastname: Svasti
authors.affiliation: Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
authors.forename: Narisorn
authors.initials: N
authors.lastname: Kitiyanant
authors.affiliation: Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
authors.forename: Kittiphong
authors.initials: K
authors.lastname: Paiboonsukwong
authors.affiliation: Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand.
authors.forename: Suthat
authors.initials: S
authors.lastname: Fucharoen
authors.affiliation: Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand. Electronic address: alisa.tub@mahidol.ac.th.
authors.forename: Alisa
authors.initials: A
authors.lastname: Tubsuwan
mesh_terms: D018952:Antigens, CD34 / Q000378:metabolism; D001483:Base Sequence; D002454:Cell Differentiation; D002460:Cell Line; D065150:Cellular Reprogramming; D004252:DNA Mutational Analysis; D058732:Embryoid Bodies / Q000378:metabolism / Q000473:pathology; D005260:Female; D006412:Hematopoietic Stem Cells / Q000166:cytology / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism; D017085:alpha-Thalassemia / Q000235:genetics / Q000378:metabolism / Q000473:pathology
chemical_list: D018952:Antigens, CD34; D006455:Hemoglobins, Abnormal; D014157:Transcription Factors; C035541:Hemoglobin Constant Spring