Generation of two familial hypercholesterolemia patient-specific induced pluripotent stem cell lines harboring heterozygous mutations in the LDLR gene
Year: 2024
Type: article
Abstract: Familial hypercholesterolemia (FH) is a genetic disorder affecting the metabolism of lipoprotein, characterized by elevated levels of plasma concentrations of low-density lipoprotein cholesterol (LDLC). The most common FH cause is mutations within the gene that encodes for the LDL receptor (LDLR) protein. Two induced pluripotent stem cell (iPSC) lines were generated from patients with FH, each carrying a single heterozygous mutation in the LDLR gene, one is a missense mutation, c.631C > T, and the other is a splice-site mutation, c.313 + 1G > A. Both iPSC lines exhibited strong expression of pluripotency markers, demonstrated the ability to differentiate into derivatives of the three germ layers, and maintained normal karyotypes. These derived iPSC lines represent powerful tools for in vitro modeling FH and offer a promising platform for therapeutic development.
Source: Stem Cell Research
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,320
Awards: Modeling Susceptibility to Radiation Therapy-induced Cardiotoxicity Using Cell Village iPSCs, G2168952822, G2476543171, G5170875372, Single-cell Multi-omic Profiling of Drug Responses Using Pooled iPSC-CM Differentiation, Elucidating Mechanism of Cardiac Fibrosis with Cell Village of Pooled Human iPSCs
OpenAlex ID: W4399332446