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 a human induced pluripotent stem cell line PUMCi001-A from a patient with Krabbe disease

2 Aug 2020

Abstract excerpt

We have generated PUMCi001-A, an induced pluripotent stem cells (iPSC) line from dermal fibroblasts of a 13-year-old male Krabbe disease patient with two hemizygous (461C > A and 1244G > A) mutations in Galactocerebrosidase (GALC) gene using a Sendai viral delivery of OCT4, SOX2, KLF4, and c-MYC. The PUMCi001-A iPSC line carried the GALC mutations, displayed typical iPSC morphology, expressed pluripotent stem...

Read the complete abstract on PubMed

Topics

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

Share to CRISPR and Genetic Engineering
Share to Lysosomal Storage Disorders Research
Share to Retinal Development and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32763824
DOI: 10.1016/j.scr.2020.101937

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation of a human induced pluripotent stem cell line PUMCi001-A from a patient with Krabbe diseasePMID 32763824Read ↗

Production and characterization of human induced pluripotent stem cell line (PUMCi002-A) from a Krabbe patient related control to study disease mechanisms associated with GALC mutation.Semantic proximity Read ↗

Generation of the human induced pluripotent stem cell line PUMCi005-A from a patient with Perrault syndrome.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line ATCi002-A from a two-year-old chinese boy with Keipert syndrome.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line (ZZUi020-A) from a patient with Parkinson's disease harboring the intermediate-length GGC repeat expansions in the NOTCH2NLC gene.Semantic proximity Read ↗

Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic DiseasesSemantic proximity Read ↗

Generation of a human iPSC line (MPIi006-A) from a patient with Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Generation of induced pluripotent stem cell line (RCMGi001-A) from human skin fibroblasts of a cystic fibrosis patient with p.F508del mutation.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line, FJMUUHi001-A, from a hereditary Parkinson's disease patient with homozygous mutation of c.189dupA in PARK7.Semantic proximity Read ↗

Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi011-A) from skin fibroblasts of a healthy Jordanian male subjectSemantic proximity Read ↗

Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.Semantic proximity Read ↗

Establishment of a human induced pluripotent stem cell line, KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis (EV) bearing homozygous splicing donor site mutation in the TMC8 gene.Semantic proximity Read ↗

Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene.Semantic proximity Read ↗

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