Generation of an iPSC line (CRICKi001-A) from an individual with a germline SMARCA4 missense mutation and autism spectrum disorder.

Liani G Devito, Lyn Healy, Shehla Mohammed, Francois Guillemot, Cristina Dias

Open access · goldAbstract read

In one paragraph

Article in Stem cell research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

0.4field-weighted citation impact, top 42% 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

0 citing papers in PubMed, 6 citations in OpenAlex.

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

5 authors at 2 institutions in 1 country.

Liani G DevitoHuman Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK. Electronic address: liani.devito@crick.ac.uk.

Lyn HealyHuman Embryo and Stem Cell Unit, The Francis Crick Institute, London, UK. Electronic address: Lyn.Healy@crick.ac.uk.

Shehla MohammedDepartment of Clinical Genetics, Guy's and St Thomas' Hospital, London, UK. Electronic address: Shehla.Mohammed@gstt.nhs.uk.

Francois GuillemotNeural Stem Cell Biology Lab, The Francis Crick Institute, London, UK. Electronic address: Francois.Guillemot@crick.ac.uk.

Cristina DiasDepartment of Clinical Genetics, Guy's and St Thomas' Hospital, London, UK; Neural Stem Cell Biology Lab, The Francis Crick Institute, London, UK; Department of Medical and Molecular Genetics, School of Basic & Medical Biosciences, King's College London, UK; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address: cristina.dias@kcl.ac.uk.

The Francis Crick Institute · GBSt Thomas' Hospital · GB

Funding

Wellcome TrustWellcome Trust 209568/Z/17/Z

6 · The paper itself

Abstract

Germline missense mutations in the BAF swi/snf chromatin remodeling subunit SMARCA4 are associated with neurodevelopmental disorders, including Coffin Siris Syndrome (CSS). Here, we generated an induced pluripotent stem cell line from a male patient with atypical CSS features and a de novo heterozygous missense mutation in the SMARCA4 gene (c.3607C>T, p.(Arg1203Cys)). Hair root derived keratinocytes were reprogrammed using non-integrative Sendai virus vector delivery of pluripotency factors. iPSCs generated display normal morphology and molecular karyotype, express pluripotency markers and are able to differentiate into the three germ layers.

Indexed as

Abnormalities, MultipleAutism Spectrum DisorderHand Deformities, CongenitalInduced Pluripotent Stem CellsIntellectual DisabilityMicrognathismDNA HelicasesFaceGerm CellsHumansMaleMutationMutation, MissenseNeckNuclear ProteinsTranscription FactorsDNA HelicasesNuclear ProteinsSMARCA4 protein, humanTranscription Factors

Identifiers

PMID33799280

DOI10.1016/j.scr.2021.102304

PMCPMC8164104

OpenAlexW3138784639

What Socratic 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 Socratic graph.