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: Wasinee Wongkummool, Warun Maneepitasut, Thongperm Munkongdee, Pirut Tong-Ngam, Amornrat Tangprasittipap, Saovaros Svasti, Narisorn Kitiyanant, Kittiphong Paiboonsukwong, Suthat Fucharoen, Alisa Tubsuwan
• Journal: Stem cell research (Stem Cell Res) Vol. 20 Pg. 84-87 (04 2017) ISSN: 1876-7753 [Electronic] England
• PMID: 28395746 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Chemical References

• Antigens, CD34
• Hemoglobins, Abnormal
• Transcription Factors
• Hemoglobin Constant Spring

Topics

• Antigens, CD34 (metabolism)
• Base Sequence
• Cell Differentiation
• Cell Line
• Cellular Reprogramming
• DNA Mutational Analysis
• Embryoid Bodies (metabolism, pathology)
• Female
• Hematopoietic Stem Cells (cytology, metabolism)
• Hemoglobins, Abnormal (genetics)
• Homozygote
• Humans
• Induced Pluripotent Stem Cells (cytology, metabolism)
• Karyotype
• Microscopy, Fluorescence
• Middle Aged
• Polymorphism, Single Nucleotide
• Transcription Factors (genetics, metabolism)
• alpha-Thalassemia (genetics, metabolism, pathology)