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 isogenic Propionyl-CoA carboxylase beta subunit (PCCB) deficient induced pluripotent stem cell lines.

Stem cell research - 1 Oct 2020

Pournasr Behshad, Duncan Stephen A

Abstract excerpt

Propionic acidemia (PA) is an autosomal recessive metabolic liver disease caused by defects in propionyl CoA carboxylase. Propionyl CoA carboxylase is a dodecameric enzyme consisting of multiple copies of alpha and beta subunits encoded by the PCCA and PCCB genes. Mutations in either PCCA or PCCB can cause the disease. PA is categorized as a rare disease and accessing patients' cells to study the disease has been...

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 Exons
Share to Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Methylmalonyl-CoA Decarboxylase

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 32822967
DOI: 10.1016/j.scr.2020.101953
PMCID: PMC7640943

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 isogenic Propionyl-CoA carboxylase beta subunit (PCCB) deficient induced pluripotent stem cell lines.PMID 32822967Read ↗

Generation of an isogenic human induced pluripotent stem cell line with a mutant propionyl-CoA carboxylase α subunitSemantic proximity Read ↗

Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology.Semantic proximity Read ↗

Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a male infant with propionic acidemia carrying compound heterozygote mutations in PCCB gene.Semantic proximity Read ↗

Generation of an isogenic human induced pluripotent stem cell line with a mutant propionyl-CoA carboxylase α subunit.Semantic proximity Read ↗

Regulating <i>PCCA</i> gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemiaSemantic proximity Read ↗

A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.Semantic proximity Read ↗

Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene.Semantic proximity Read ↗

Novel variants of the PCCB gene in Chinese patients with propionic acidemia.Semantic proximity Read ↗

Propionyl-CoA carboxylase - A review.Semantic proximity Read ↗

Generation and characterization of iPSC lines (BGUi004-A, BGUi005-A) from two identical twins with polyalanine expansion in the paired-like homeobox 2B (PHOX2B) gene.Semantic proximity Read ↗

Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell (iPSC) line SDQLCHi056-A from a patient with Nicolaides-Baraitser syndrome carrying a mutation in SMARCA2 gene.Semantic proximity Read ↗

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