Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene
2017
Abstract Human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia carrying mutations in the PCCA gene: c.1899+4_1899+7delAGTA; p.(Cys616_Val633del) and c.1430 −−?_1643+?del; p.(Gly477Glufs*9). Reprogramming factors OCT3 / 4 , SOX2 , KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability.
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