Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene

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 kary...

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Published inStem cell research Vol. 80; p. 103517
Main Authors Varea, Isabella, Joseph, Benjamin, Emmerich, Kevin, Manohar-Sindhu, Sahana, Zou, Jizhong, Friend, Kip, Tang, Xuming, Yang, Dan, de Jesus Rasheed, Adriana A, Goldbach-Mansky, Raphaela, Boehm, Manfred
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.10.2024
Elsevier
Subjects
Adolescent
cdc42 GTP-Binding Protein - genetics
cdc42 GTP-Binding Protein - metabolism
Cell Differentiation
Child
Female
Heterozygote
Humans
Induced Pluripotent Stem Cells - metabolism
Male
Mutation
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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.
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ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103517