Generation of human pluripotent stem cell lines (WAe009-A) with THAP11 F80L cobalamin disorder-associated mutation

Recent studies reported that the mutation in the THAP11 gene (THAP11 ) could be responsible for the inborn vitamin deficiency known as cobalamin disorder, by affecting the expression of the enzyme MMACHC, key in the cobalamin metabolism. However, the specifics of the molecular mechanism are largely...

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Bibliographic Details
Published in:Stem cell research 2024-09, Vol.79, p.103483
Main Authors: Qin, Yiren, Godoy-Parejo, Carlos, Skowronska, Marta, Verma, Angela, Dejosez, Marion, Zwaka, Thomas P
Format: Article
Language:English
Subjects:
Cell Differentiation
Cell Line
Humans
Mutation
Pluripotent Stem Cells - cytology
Pluripotent Stem Cells - metabolism
Vitamin B 12 - metabolism
Vitamin B 12 Deficiency - genetics
Vitamin B 12 Deficiency - metabolism
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Summary:Recent studies reported that the mutation in the THAP11 gene (THAP11 ) could be responsible for the inborn vitamin deficiency known as cobalamin disorder, by affecting the expression of the enzyme MMACHC, key in the cobalamin metabolism. However, the specifics of the molecular mechanism are largely unknown. In here we generated genetically modified human pluripotent stem cell lines with THAP11 mutation, providing a new research tool for futher exploring the molecular mechanism. The established hPSC lines remain pluripotent, showing expression of OCT3/4, differentiation capacity to the three germ layers and displaying normal karyotype.
ISSN:1876-7753