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Generation of the human induced pluripotent stem cell line (SHAMUi001-A) carrying the heterozygous c.-128G>T mutation in the 5′-UTR of the ANKRD26 gene.
- Source :
- Stem Cell Research; Oct2020, Vol. 48, pN.PAG-N.PAG, 1p
- Publication Year :
- 2020
-
Abstract
- Thrombocytopenia 2 (THC2) is a major type of inherited thrombocytopenia caused by the persistent ANKRD26 expression during the late stage of megakaryocytopoiesis. For the first time, we generated a human induced pluripotent stem cell (hiPSC) line SHAMUi001-A from the bone marrow hematopoietic progenitor cells of a THC2 patient, who has a heterozygous mutation (c.-128G>T) in the 5′-UTR of ANKRD26 gene. SHAMUi001-A cells retain the mutation, display pluripotent stem cell characteristics, and have a normal female karyotype. This disease-specific hiPSC line will be a useful model for THC2 research. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 18735061
- Volume :
- 48
- Database :
- Supplemental Index
- Journal :
- Stem Cell Research
- Publication Type :
- Academic Journal
- Accession number :
- 146428137
- Full Text :
- https://doi.org/10.1016/j.scr.2020.102002