Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation

We have successfully generated human induced pluripotent stem cells (hiPSC) from peripheral blood mononuclear cells (PBMCs) of a patient with COPA Syndrome. The patient, a 6 year old Caucasian male, has a spontaneous de novo missense mutation that replaced alanine with proline in the COPA gene. This...

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Published inStem cell research Vol. 80; p. 103504
Main Authors Joseph, Benjamin, Varea, Isabella, Emmerich, Kevin, Manohar-Sindhu, Sahana, Zou, Jizhong, Friend, Kip, Sipwoli, Caleb, 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
Cell Differentiation
Cell Line
Child
Heterozygote
Humans
Induced Pluripotent Stem Cells - metabolism
Leukocytes, Mononuclear - cytology
Leukocytes, Mononuclear - metabolism
Male
Mutation
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Summary:We have successfully generated human induced pluripotent stem cells (hiPSC) from peripheral blood mononuclear cells (PBMCs) of a patient with COPA Syndrome. The patient, a 6 year old Caucasian male, has a spontaneous de novo missense mutation that replaced alanine with proline in the COPA gene. This paper confirms the differentiation potential of the hiPSC line, the presence of the p.Ala239Pro mutation, and the expression of typical pluripotency markers within the hiPSC line. The hiPSC line is ready for use as a cellular model of COPA Syndrome.
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Co-first author.
ISSN:1873-5061
1876-7753
1876-7753
DOI:10.1016/j.scr.2024.103504