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Stem Cell Res. 2019 Feb 18;36:101397. doi: 10.1016/j.scr.2019.101397. [Epub ahead of print]

Generation of a human induced pluripotent stem cell line (MUi010-A) from skin fibroblast of patient carrying a c.2104C>T mutation in MYH9 gene.

Author information

1
Office of Research, Academic Affairs and Innovations, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
2
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.
3
Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom 73170, Thailand. Electronic address: narisorn.kit@mahidol.ac.th.

Abstract

Mutations in MYH9 gene is one of the major causes of inherited thrombocytopenia resulted from nonfunctional myosin-9 protein. We have generated a human induced pluripotent stem cell line MUi010-A from skin fibroblasts of a patient who had a point mutation c.2104C>T (p.R702C) in the exon 16 of MYH9 gene using a non-integrative reprogramming method. The MUi010-A exhibited embryonic stem cell-like characteristics with consistent pluripotent markers expression, was capable of all three embryonic germ layers differentiation, and had a normal karyotype.

PMID:
30798146
DOI:
10.1016/j.scr.2019.101397
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