The generation of this iPSC line provides a valuable in vitro model for studying familial combined hyperlipidemia associated with LPL mutations.
Patient-derived iPSCs generated for LPL hyperlipidemia; leaves open disease modeling and drug testing but requires validation before any research translation.
In this study, peripheral blood monouclear cells (PBMCs) were donated from a boy suffering from familial combined hyperlipidemia confirmed by clinical and genetic diagnosis, which carried compound heterozygous mutations of lipoprotein lipase (LPL) gene. The induced pluripotent stem cell (iPSC) was generated with non-integrated episomal vectors carrying OCT4, SOX2, KLF4, BCL-XL and C-MYC. The iPSCs presented the morphology of pluripotent cells, highly expressed mRNA and protein of pluripotent markers, excellent differentiation potency in vitro and normal karyotype, and bore LPL gene mutations.
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Li et al. (2021) studied this question.
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