Generation of induced pluripotent stem cells (iPSCs) from a Bernard–Soulier syndrome patient carrying a W71R mutation in the GPIX gene
We generated an induced pluripotent stem cell (iPSC) line from a Bernard–Soulier Syndrome (BSS) patient carrying the mutation p.Trp71Arg in the GPIX locus (BSS1-PBMC-iPS4F4). Peripheral blood mononuclear cells (PBMCs) were reprogrammed using heat sensitive non-integrative Sendai viruses containing t...
Main Authors: | , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2016-05-01
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Series: | Stem Cell Research |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506116300253 |
Summary: | We generated an induced pluripotent stem cell (iPSC) line from a Bernard–Soulier Syndrome (BSS) patient carrying the mutation p.Trp71Arg in the GPIX locus (BSS1-PBMC-iPS4F4). Peripheral blood mononuclear cells (PBMCs) were reprogrammed using heat sensitive non-integrative Sendai viruses containing the reprogramming factors Oct3/4, SOX2, KLF4 and c-MYC. Successful silencing of the exogenous reprogramming factors was checked by RT-PCR. Characterization of BSS1-PBMC-iPS4F4 included mutation analysis of GPIX locus, Short Tandem Repeats (STR) profiling, alkaline phosphatase enzymatic activity, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vivo differentiation studies. BSS1-PBMC-iPS4F4 will provide a powerful tool to study BSS. |
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ISSN: | 1873-5061 1876-7753 |