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Mutations in the LPL gene lead to familial hypertriglyceridemia (FHTG) . We have previously generated an iPSC line (AHQUi001-A) from a FHTG patient with a heterozygous p.C310R (c.928 T > C) mutation in… Click to show full abstract
Mutations in the LPL gene lead to familial hypertriglyceridemia (FHTG) . We have previously generated an iPSC line (AHQUi001-A) from a FHTG patient with a heterozygous p.C310R (c.928 T > C) mutation in the LPL gene. Here we genetically corrected the C310R mutation in the LPL gene using CRISPR/Cas9 technology to generate AHQUi001-A-1, which demonstrates normal karyotype, morphology, pluripotency, and potential to differentiate towards three germ layers.
Keywords:
lpl gene;
mutation lpl;
c310r;
gene;
fhtg
Journal Title: Stem cell research
Year Published: 2021
Link to full text (if available)
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Journal Title: Stem cell research
Year Published: 2021
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!