Generation of a gene-corrected isogenic iPSC line (AHQUi001-A-1) from a patient with familial hypertriglyceridemia (FHTG) carrying a heterozygous p.C310R (c.928 T C) mutation in LPL gene using CRISPR/Cas9

Autor:	Yangang Wang, Xinhua Xiao, Xiaofang Sun, Xiang Zhou, Bingzi Dong, Chen Wang
Rok vydání:	2021
Předmět:	0301 basic medicine Heterozygote Induced Pluripotent Stem Cells Biology medicine.disease_cause Hyperlipoproteinemia Type IV 03 medical and health sciences 0302 clinical medicine medicine CRISPR Humans Induced pluripotent stem cell Gene lcsh:QH301-705.5 Genetics Mutation Cas9 digestive oral and skin physiology nutritional and metabolic diseases Karyotype Heterozygote advantage Cell Biology General Medicine medicine.disease Familial hypertriglyceridemia 030104 developmental biology lcsh:Biology (General) lipids (amino acids peptides and proteins) CRISPR-Cas Systems 030217 neurology & neurosurgery Developmental Biology
Zdroj:	Stem Cell Research, Vol 52, Iss, Pp 102230-(2021)
ISSN:	1876-7753
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b4eb38acb888a26504134f1a9ce9a17 https://pubmed.ncbi.nlm.nih.gov/33592566 Zobrazit plný text záznamu