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 an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444).

Stem cell research - 1 Dec 2020

Franz M, Hagenau L, Koch R, Neubauer S, Nowack B, Tzvetkova A, Jensen L R, Kuss A W

Abstract excerpt

Floating-Harbor syndrome (FLHS) is a rare genetic disease caused by mutations in the SRCAP gene. Here, we generated an induced pluripotent stem cell line from gingival fibroblasts of a male patient with a heterozygous mutation in exon 34 of the SRCAP gene (c.7330C > T, p.Arg2444*). The iPSC colonies have an atypical morphology with diffuse borders and disintegrate quickly upon touch. Still, the cell line...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Adenosine Triphosphatases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniofacial Abnormalities

Share to Growth Disorders

Share to Heart Septal Defects, Ventricular

Share to Induced Pluripotent Stem Cells

Share to Mutation

Source

Identifiers

PMID: 33099107
DOI: 10.1016/j.scr.2020.102028

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444).PMID 33099107Read ↗

Generation of two iPSC lines (MHHi001-A-12 and MHHi001-A-13) carrying biallelic truncating mutations at the 3'-end of SRCAP using CRISPR/Cas9.Semantic proximity Read ↗

Generation of two tetracycline-inducible NGN2 iN iPSC lines carrying a heterozygous floating-Harbor syndrome SRCAP truncating mutation.Semantic proximity Read ↗

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.Semantic proximity Read ↗

Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.Semantic proximity Read ↗

Human induced pluripotent stem cells generated from a patient with a homozygous mutation in the Lyn kinase gene.Semantic proximity Read ↗

Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant.Semantic proximity Read ↗

Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease.Semantic proximity Read ↗

Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein.Semantic proximity Read ↗

An induced pluripotent stem cell line (GZHMCi004-A) derived from a fetus with heterozygous G380R mutation in FGFR3 gene causing achondroplasia.Semantic proximity Read ↗

Generation of induced pluripotent stem cell, BCHSCTi001-A, derived from a Hemophilia A patient with F8 (p. R391C) mutation.Semantic proximity Read ↗

When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.Semantic proximity Read ↗

The phenotype of gingival fibroblasts and their potential use in advanced therapies.Semantic proximity Read ↗

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