Evidence map›Paper›PMID 42648117›Full record

ArticleStem cell research2026

Generation of two homozygous iPSC lines carrying variants of uncertain significance in LMNA associated with cardiomyopathy.

Lu Liu, David Wu, Amit Manhas, Chikage Noishiki, Dipti Tripathi, Safa Sadat, Nike Bharucha, Ioannis Karakikes, Karim Sallam, Nazish Sayed

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In one paragraph

Article in Stem cell research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Lu LiuStanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA.
David WuStanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA.
Amit ManhasStanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, CA, USA.
Chikage NoishikiStanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA.
Dipti TripathiDivision of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA; Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA.
Safa SadatDivision of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA; Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA.
Nike BharuchaStanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Department of Cardiothoracic Surgery, Stanford University School of Medicine, CA, USA.
Ioannis KarakikesStanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Department of Cardiothoracic Surgery, Stanford University School of Medicine, CA, USA.
Karim SallamStanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, CA, USA.
Nazish SayedStanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA; Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, CA, USA. Electronic address: sayedns@stanford.edu.

Funding

Deciphering the Endothelial Cell-Cardiomyocyte Crosstalk in LMNA CardiomyopathyR01HL158641 · NHLBI · STANFORD UNIVERSITY · PI SAYED, NAZISH · 2021 to 2025
$2.2M
Unraveling the role of endothelium in chemotherapy-induced cardiotoxicityR01HL161002 · NHLBI · STANFORD UNIVERSITY · PI SAYED, NAZISH · 2022 to 2025
$1.6M
Unraveling Endothelial-CardiomyocyteCrosstalk in Cardiomyopathy: An Integrated Multimodal ApproachR35HL183578 · NHLBI · STANFORD UNIVERSITY · PI Nazish Sayed · 2026 to 2026
$770k
NHLBI NIH HHS R01 HL158641NHLBI NIH HHS R01 HL161002NHLBI NIH HHS R35 HL183578
6 · The paper itself

Abstract

Variants of uncertain significance (VUS) in the LMNA gene represent a major challenge in clinical genetics, as insufficient functional evidence limits their interpretation and clinical decision-making in laminopathies, including dilated cardiomyopathy (DCM). Here, we generated two isogenic induced pluripotent stem cell (iPSC) lines carrying homozygous LMNA variants, c.293A > G (p.Glu98Gly) and c.439G > A (p.Ala147Thr) by prime editing of a healthy donor iPSC line. Both variants are located within Coil 1B domain of lamin A. The edited iPSC lines retain normal morphology, pluripotency, genomic integrity, and trilineage differentiation capacity, providing a valuable platform for functional characterization and potential clinical reclassification of LMNA VUS.

Indexed as

CardiomyopathiesCardiomyopathy, DilatedInduced Pluripotent Stem CellsLamin Type ACell DifferentiationCell LineHomozygoteHumansLamin Type ALMNA protein, humanInduced pluripotent stem cellsLMNAPluripotencyVariants of uncertain significance

Identifiers

PMID42648117
PMCPMC13618759

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.