Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene
Summary
Induced pluripotent stem cells (iPSCs) were successfully generated from peripheral blood mononuclear cells obtained from two patients with a heterozygous mutation in the CDC42 gene. Both iPSC lines expressed pluripotency markers, differentiated into the three germ layers in vitro, showed normal karyotypes, and retained the disease-causing mutation. Created iPSC lines and their differentiated derivatives may be of interest in the study of the physiology of disease mechanisms and therapy. Published by Elsevier B.V.
| Authors | Varea I, Joseph B, Emmerich K, Manohar-Sindhu S, Zou J, Friend K, Tang X, Yang D, de Jesus Rasheed AA, Goldbach-Mansky R, Boehm M |
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| Journal | Stem cell research |
| Publication Date | 2024 Oct;80:103517 |
| PubMed | 39106600 |
| PubMed Central | PMC11395911 |
| DOI | 10.1016/j.scr.2024.103517 |