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.
journal_name
Stem Cell Resjournal_title
Stem cell researchauthors
Tan C,Dai L,Yang W,Li F,Wang L,Xiao Y,Wang X,Zhang Y,Wang Y,Zeng C,Xiang Z,Zhang X,Zhang W,Ran Q,Chen M,Li Z,Chen Ldoi
10.1016/j.scr.2020.102002subject
Has Abstractpub_date
2020-10-01 00:00:00pages
102002eissn
1873-5061issn
1876-7753pii
S1873-5061(20)30303-2journal_volume
48pub_type
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