Induced Pluripotent Stem Cell Differentiation Enables Functional Validation of GWAS Variants in Metabolic Disease.

doi:10.1016/j.stem.2017.01.010

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Induced Pluripotent Stem Cell Differentiation Enables Functional Validation of GWAS Variants in Metabolic Disease.

Cell stem cell - 6 Apr 2017

Warren Curtis R, O'Sullivan John F, Friesen Max, Becker Caroline E, Zhang Xiaoling, Liu Poching, Wakabayashi Yoshiyuki, Morningstar Jordan E, Shi Xu, Choi Jihoon, Xia Fang, Peters Derek T, Florido Mary H C, Tsankov Alexander M, Duberow Eilene, Comisar Lauren, Shay Jennifer, Jiang Xin, Meissner Alexander, Musunuru Kiran, Kathiresan Sekar, Daheron Laurence, Zhu Jun, Gerszten Robert E, Deo Rahul C, Vasan Ramachandran S, O'Donnell Christopher J, Cowan Chad A

Abstract excerpt

Genome-wide association studies (GWAS) have highlighted a large number of genetic variants with potential disease association, but functional analysis remains a challenge. Here we describe an approach to functionally validate identified variants through differentiation of induced pluripotent stem cells (iPSCs) to study cellular pathophysiology. We collected peripheral blood cells from Framingham Heart Study...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cellular Reprogramming

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 1

Share to Hepatocytes

Share to Leukocytes, Mononuclear

Share to Lipid Metabolism

Share to Metabolic Diseases

Share to Metabolomics

Share to Tissue Donors

Source

Open in PubMed

Identifiers

PMID: 28388431
DOI: 10.1016/j.stem.2017.01.010

Genes

CELSR2
PSRC1
SORT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Induced Pluripotent Stem Cell Differentiation Enables Functional Validation of GWAS Variants in Metabolic Disease.PMID 28388431Read ↗

Evaluating the contribution of cell-type specific alternative splicing to variation in lipid levelsSemantic proximity Read ↗

Predicting Metabolic Dysfunction Associated Steatotic Liver Disease Risk Using Patient-Derived Induced Pluripotent Stem CellsSemantic proximity Read ↗

A Resource of Gene Expression Data from a Multiethnic Population Cohort of Induced Pluripotent Cell–Derived CardiomyocytesSemantic proximity Read ↗

Generation of an induced pluripotent stem cell (iPSC) line (EXSURGi001-A) from a patient homozygous for the p.Ala165Thr mutation in the MTARC1 gene.Semantic proximity Read ↗

Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci.Semantic proximity Read ↗

Gaining insight into metabolic diseases from human genetic discoveries.Semantic proximity Read ↗

Donor-matched iPSC model reveals context-dependent T2D genetic signals in fibro-adipogenic progenitorsSemantic proximity Read ↗

Modeling Familial MASH by iPSC-HepatocytesSemantic proximity Read ↗

Identification and functional characterisation of a rare <i>MTTP</i> variant underlying hereditary non-alcoholic fatty liver diseaseSemantic proximity Read ↗

Genotype-First Approach Identifies an Association between rs28374544/FOG2S657G and Liver Disease through Alterations in mTORC1 Signaling.Semantic proximity Read ↗

Human Induced Pluripotent Stem Cell based Hepatic-Modeling of Lipid metabolism associated TM6SF2 E167K variantSemantic proximity Read ↗

Cohort Generation and Characterization of Patient-Specific Familial Hypercholesterolemia Induced Pluripotent Stem Cells.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.