Evidence map›Paper›PMID 38110787›Full record

ArticleHuman cell2024

Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A.

Maryam Alowaysi, Mohammad Al-Shehri, Amani Badkok, Hanouf Attas, Doaa Aboalola, Moayad Baadhaim, Hajar Alzahrani, Mustafa Daghestani, Asima Zia, Khalid Al-Ghamdi and 5 more

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

Article in Human cell, 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
1.1field-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, 5 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

15 authors at 3 institutions in 1 country.

Maryam AlowaysiKing Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Mohammad Al-ShehriKing Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Amani BadkokKing Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Hanouf AttasKing Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Doaa AboalolaKing Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Moayad BaadhaimKing Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Hajar AlzahraniKing Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Mustafa DaghestaniKing Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Asima ZiaBiological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Khalid Al-GhamdiForensic Laboratories, Criminal Evidence Department, Jeddah, Saudi Arabia.
Asayil Al-GhamdiForensic Laboratories, Criminal Evidence Department, Jeddah, Saudi Arabia.
Samer ZakriKing Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Sihem AouabdiKing Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Jesper TegnerBiological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Khaled AlsayeghKing Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia. alsayeghkn@Kaimrc.edu.sa.ORCID http://orcid.org/0000-0003-2654-835X
King Saud bin Abdulaziz University for Health Sciences · SAKing Abdullah University of Science and Technology · SAUniversity of Jeddah · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The most prevalent form of epileptic encephalopathy is Dravet syndrome (DRVT), which is triggered by the pathogenic variant SCN1A in 80% of cases. iPSCs with different SCN1A mutations have been constructed by several groups to model DRVT syndrome. However, no studies involving DRVT-iPSCs with rare genetic variants have been conducted. Here, we established two DRVT-iPSC lines harboring a homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A gene. Therefore, the derivation of these iPSC lines provides a unique cellular platform to dissect the molecular mechanisms underlying the cellular dysfunctions consequent to CPLX1 and SCN9A mutations.

Indexed as

Epilepsies, MyoclonicInduced Pluripotent Stem CellsHeterozygoteHumansMutationNAV1.7 Voltage-Gated Sodium ChannelSaudi ArabiaNAV1.7 Voltage-Gated Sodium ChannelSCN9A protein, humanCPLX1 variantDravet syndromeEpileptic encephalopathyiPSCSCN9A variant

Identifiers

PMID38110787
PMCPMC10890977
OpenAlexW4389903363

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.