Generation of two familial hypercholesterolemia patient-specific induced pluripotent stem cell lines harboring heterozygous mutations in the LDLR gene.
Stem Cell Res
; 78: 103463, 2024 Aug.
Article
de En
| MEDLINE
| ID: mdl-38852422
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.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Récepteurs aux lipoprotéines LDL
/
Cellules souches pluripotentes induites
/
Hétérozygote
/
Hyperlipoprotéinémie de type II
/
Mutation
Limites:
Female
/
Humans
/
Male
Langue:
En
Journal:
Stem Cell Res
Année:
2024
Type de document:
Article
Pays d'affiliation:
États-Unis d'Amérique