Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.
Fabry Disease (FD) is a multisystemic X-linked disorder that belongs to the group of lysosomal storage disorders (LSDs). Causal mutations on alpha-galactosidase A (α-Gal A) commonly lead to abnormal protein and consequently to FD. Since it is an X-linked disease, males are primarily affected. This work describes the generation of induced Pluripotent Stem Cells (iPSCs) from skin fibroblasts from a FD patient, using non-integrative episomal vectors. Differentiation of iPSCs can be applied to generate a variety of cell types with high degree of genetic complexity that would otherwise be difficult to obtain.
Pubmed ID: 32388441 RIS Download
Research resources used in this publication
None foundAdditional research tools detected in this publication
None foundAntibodies used in this publication
- Donkey Anti-Goat IgG (H+L) Antibody, Alexa Fluor 488 Conjugated (RRID:AB_2534102)
- Human Otx2 Affinity Purified Polyclonal Ab (RRID:AB_2157172)
- Goat Anti-Human Sox17 Polyclonal antibody, Unconjugated (RRID:AB_355060)
- Human/Mouse Brachyury Affinity Purified Polyclonal Ab (RRID:AB_2200235)
- Anti-TRA-1-60, clone TRA-1-60 (RRID:AB_2119183)
- Mouse Anti-OCT-4 (POU5F1) Monoclonal Antibody, Unconjugated, Clone 7F9.2 (RRID:AB_1977399)
- Anti-SOX-2, clone 10H9.1 (RRID:AB_11205572)
- NEW Anti-NANOG, clone 7F7.1 (RRID:AB_11203826)
Associated grants
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This is a list of tools and resources that we have found mentioned in this publication.
Donkey Anti-Goat IgG (H+L) Antibody, Alexa Fluor 488 Conjugated (antibody)
RRID:AB_2534102
This unknown targets IgG (H+L)
View all literature mentionsHuman Otx2 Affinity Purified Polyclonal Ab (antibody)
RRID:AB_2157172
This polyclonal targets Human Otx2 Affinity Purified Ab
View all literature mentionsGoat Anti-Human Sox17 Polyclonal antibody, Unconjugated (antibody)
RRID:AB_355060
This polyclonal targets Human SOX17
View all literature mentionsHuman/Mouse Brachyury Affinity Purified Polyclonal Ab (antibody)
RRID:AB_2200235
This polyclonal targets Human/Mouse Brachyury Affinity Purified Ab
View all literature mentionsAnti-TRA-1-60, clone TRA-1-60 (antibody)
RRID:AB_2119183
This monoclonal targets HSP90B1
View all literature mentionsMouse Anti-OCT-4 (POU5F1) Monoclonal Antibody, Unconjugated, Clone 7F9.2 (antibody)
RRID:AB_1977399
This monoclonal targets OCT-4 (POU5F1)
View all literature mentionsAnti-SOX-2, clone 10H9.1 (antibody)
RRID:AB_11205572
This monoclonal targets SOX-2 clone 10H9.1
View all literature mentionsNEW Anti-NANOG, clone 7F7.1 (antibody)
RRID:AB_11203826
This monoclonal targets NEW NANOG clone 7F7.1
View all literature mentions
