Evidence map›Paper›PMID 38154383›Full record

ArticleStem cell research2024

Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome.

Danielle Mendonca, Gerarda Cappuccio, Jennifer Sheppard, Magdalena Delacruz, Jesse Bengtsson, Claudia M B Carvalho, Aleksandar Bajic, Hyekyung Park, Jean J Kim, Paymaan Jafar-Nejad and 4 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Stem cell research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.6field-weighted citation impact, top 22% of its field
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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Article
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

14 authors at 3 institutions in 1 country.

Danielle MendoncaDepartment of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Gerarda CappuccioDepartment of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Jennifer SheppardDepartment of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Magdalena DelacruzDepartment of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Jesse BengtssonPacific Northwest Research Institute, Seattle, WA 98122, USA.
Claudia M B CarvalhoPacific Northwest Research Institute, Seattle, WA 98122, USA.
Aleksandar BajicJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Advanced Technology Cores, Baylor College of Medicine, Houston, TX 77030, USA.
Hyekyung ParkAdvanced Technology Cores, Baylor College of Medicine, Houston, TX 77030, USA.
Jean J KimAdvanced Technology Cores, Baylor College of Medicine, Houston, TX 77030, USA; Stem Cells and Regenerative Medicine Center, Baylor College of Medicine, Houston, TX, USA.
Paymaan Jafar-NejadIonis Pharmaceuticals Inc., Carlsbad, CA 92010, USA.
Christine CoqueryIonis Pharmaceuticals Inc., Carlsbad, CA 92010, USA.
Davut PehlivanDepartment of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX 77030, USA.
Bernhard SuterDepartment of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX 77030, USA.
Mirjana Maletic-SavaticDepartment of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: Mirjana.Maletic-Savatic@bcm.edu.
Baylor College of Medicine · USIonis Pharmaceuticals (United States) · USPacific Northwest Diabetes Research Institute · US

Funding

Tumor BiologyP30CA125123 · NCI · BAYLOR COLLEGE OF MEDICINE · PI DAVID R ROWLEY · 2007 to 2026
$73.9M
Preclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI MIRJANA MALETIC-SAVATIC · 2020 to 2026
$9.9M
Uncovering inversion formation in the human genome and its impact to disease.R01GM132589 · NIGMS · PACIFIC NORTHWEST RESEARCH INSTITUTE · PI FONSECA, CLAUDIA CARVALHO · 2020 to 2024
$3.5M
The Clinical Translational Research Certificate of Added Qualification ProgramT32GM136554 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Melissa Suter, IGNATIA B VAN DEN VEYVER · 2020 to 2026
$3.0M
NCI NIH HHS P30 CA125123NICHD NIH HHS P50 HD103555NIGMS NIH HHS R01 GM132589NIGMS NIH HHS T32 GM136554
6 · The paper itself

Abstract

MECP2 Duplication Syndrome (MDS) is a rare, severe neurodevelopmental disorder arising from duplications in the Xq28 region containing the MECP2 gene that predominantly affects males. We generated five human induced pluripotent stem cell (iPSC) lines from the fibroblasts of individuals carrying between 0.355 and 11.2 Mb size duplications in the chromosomal locus containing MECP2. All lines underwent extensive testing to confirm MECP2 duplication and iPSC-related features such as morphology, pluripotency markers, and trilineage differentiation potential. These lines are a valuable resource for molecular and functional studies of MDS as well as screening for a variety of therapeutic approaches.

Indexed as

Induced Pluripotent Stem CellsMethyl-CpG-Binding Protein 2X-Linked Intellectual DisabilityCell DifferentiationGene DuplicationHumansMaleMECP2 protein, humanMethyl-CpG-Binding Protein 2

Identifiers

PMID38154383
PMCPMC10898976
OpenAlexW4390024406

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.