| Title : A non-integrated iPSC line (SDQLCHi042-A) from a boy suffering from familial combined hyperlipidemia with compound heterozygous mutations of lipoprotein lipase gene - Li_2021_Stem.Cell.Res_53_102313 |
| Author(s) : Li Z , Zhang X , Li X , Yang Y , Xin H , Yang X , Liu N , Gai Z , Liu Y |
| Ref : Stem Cell Res , 53 :102313 , 2021 |
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Abstract :
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. |
| PubMedSearch : Li_2021_Stem.Cell.Res_53_102313 |
| PubMedID: 34087978 |
| Gene_locus related to this paper: human-LPL |
| Mutation | IVS1-1G>T-2T>G_human-LPL L279R_human-LPL |
| Gene_locus | human-LPL |
| Disease | Hyperlipoproteinemia TypeI |
Li Z, Zhang X, Li X, Yang Y, Xin H, Yang X, Liu N, Gai Z, Liu Y (2021)
A non-integrated iPSC line (SDQLCHi042-A) from a boy suffering from familial combined hyperlipidemia with compound heterozygous mutations of lipoprotein lipase gene
Stem Cell Res
53 :102313
Li Z, Zhang X, Li X, Yang Y, Xin H, Yang X, Liu N, Gai Z, Liu Y (2021)
Stem Cell Res
53 :102313