Evidence map›Paper›PMID 38100914›Full record

ArticleStem cell research2024

Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene.

Mazzotta C, Serpieri V, Orsi A, Cavan S, Rossi E, Stanzial F, Valente E M

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. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 75% 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, 0 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

7 authors at 3 institutions in 1 country.

Mazzotta CDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.
Serpieri VDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.
Orsi ADepartment of Molecular Medicine, University of Pavia, Pavia, Italy.
Cavan SDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.
Rossi EDepartment of Molecular Medicine, University of Pavia, Pavia, Italy; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.
Stanzial FGenetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
Valente E MDepartment of Molecular Medicine, University of Pavia, Pavia, Italy; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy. Electronic address: enzamaria.valente@unipv.it.
University of Pavia · ITFondazione Istituto Neurologico Nazionale Casimiro Mondino · ITOspedale di Bolzano · IT

Funding

Rete IDEA; Ricerca Finalizzata RF-2019-12369368Telethon Foundation GGP20070
6 · The paper itself

Abstract

We generated iPSC line using skin fibroblasts obtained from a female patient affected by Joubert syndrome, caused by two compound heterozygous variants (c.143G > A; p.Gly48Glu and c.1784 T > G; p.Leu595Ter) in CPLANE1. We used Sendai-virus-based technique for reprogramming and then we applied karyotype analysis, to exclude possible acquired big rearrangements. We verified the presence of the same STR profile as fibroblasts, the stem cell state (by immunofluorescence and qPCR) and, finally, the pluripotency state (by in vitro trilineage differentiation).

Indexed as

Abnormalities, MultipleEye AbnormalitiesInduced Pluripotent Stem CellsKidney Diseases, CysticCell DifferentiationCerebellumFemaleHumansMutationRetina

Identifiers

PMID38100914
PMCPMC10805004
OpenAlexW4389265605

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.