Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Generation of human induced pluripotent stem cell lines carrying a heterozygous and homozygous PRKD1 c.1774G > A genetic variant causing syndromic congenital defects.

Stem cell research - 1 Apr 2026

Witthoff Fabian, Pietsch Niels, Henning Philipp, Meier Leah S, Fuchs Sigrid, Augustin Christa, Orth Julia, Stathopoulou Konstantina, Orthey Ellen, Krämer Elisabeth, Carrier Lucie, Herberg Friedrich W, Spielmann Nadine, Hitz Marc-Philip, Brook J David, Loughna Siobhan, Cuello Friederike

Abstract excerpt

Protein kinase D1 (PRKD1) is a serine threonine kinase with roles in the regulation of embryonic development, contractility, vesicle transport and cytoskeleton organization. Consequently, variants in PRKD1 that alter its kinase activity are associated with severe anomalies, manifesting as syndromic congenital defects in patients. To investigate the molecular pathomechanisms underlying PRKD1 genetic variants, the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Line
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Induced Pluripotent Stem Cells

Share to Mutation

Share to Protein Kinase C

Share to Syndrome

Source

Identifiers

PMID: 41722371
DOI: 10.1016/j.scr.2026.103937

Genes

PRKD1
TUBA1B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation of human induced pluripotent stem cell lines carrying a heterozygous and homozygous PRKD1 c.1774G > A genetic variant causing syndromic congenital defects.PMID 41722371Read ↗

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1.Semantic proximity Read ↗

Functions of SRPK , CLK and DYRK kinases in stem cells, development, and human developmental disordersSemantic proximity Read ↗

CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line from a patient with global development delay carrying DYRK1A mutation (c.1730T>A) and a gene correction isogenic iPSC line.Semantic proximity Read ↗

Establishment of a PRKAG2 cardiac syndrome disease model and mechanism study using human induced pluripotent stem cells.Semantic proximity Read ↗

Novel Autosomal Recessive Splice-Altering Variant in PRKD1 Is Associated with Congenital Heart DiseaseSemantic proximity Read ↗

PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.Semantic proximity Read ↗

Studies of mice with a large deletion of the ARPKD-associated <i>Pkhd1</i> locus likely explain its GWAS association with glaucoma in humansSemantic proximity Read ↗

Generation of CRISPR/Cas9 modified human iPSC line with correction of heterozygous mutation in exon 6 of the CaSR gene.Semantic proximity Read ↗

CAKUT variants in <i>PRPF8, DYRK2</i> , and <i>CEP78</i> : implications for splicing and ciliogenesisSemantic proximity Read ↗

Generation of a transgene-free iPS cell line (SDQLCHi053-A) from a young girl carrying a heterozygous mutation (c.427C > T) in SYNGAP1 gene.Semantic proximity Read ↗

Rapid target validation in a Cas9-inducible hiPSC derived kidney modelSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.