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 line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease.

Stem cell research - 1 Dec 2019

Lito Silvin, Burda Patricie, Baumgartner Matthias, Sloan-Béna Frédérique, Táncos Zsuzsanna, Kobolák Julianna, Dinnyés András, Krause Karl-Heinz, Marteyn Antoine

Abstract excerpt

Mucopolysaccharidosis type I-Hurler (MPS1-H) is the most severe form of inherited metabolic diseases caused by mutations in the IDUA gene. The resulting deficiency of alpha L-iduronidase enzyme leads to a progressive accumulation of glycosaminoglycans in lysosomes which damages multiple organs and highly reduces life expectancy of affected children. Skin fibroblasts of a 2-year-old MPS1-H male, carrying two...

Read the complete abstract on PubMed

Topics

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

Share to Cell Differentiation
Share to Cellular Reprogramming

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Embryoid Bodies

Share to Fibroblasts

Share to Iduronidase

Share to Induced Pluripotent Stem Cells

Share to Kruppel-Like Factor 4

Share to Mucopolysaccharidosis I

Source

Identifiers

PMID: 31678774
DOI: 10.1016/j.scr.2019.101604

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 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 line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease.PMID 31678774Read ↗

Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of Mucopolysaccharidosis type II (MPS II) disorder.Semantic proximity Read ↗

Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 1-year-old male with pathogenic IDS mutation.Semantic proximity Read ↗

Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 3-year-old male with pathogenic IDS mutation.Semantic proximity Read ↗

Generation of Mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 7-year-old male with pathogenic IDS mutation.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene.Semantic proximity Read ↗

Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors.Semantic proximity Read ↗

Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome)Semantic proximity Read ↗

Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene.Semantic proximity Read ↗

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.Semantic proximity Read ↗

Establishment of iPS cell line (KLRMMEi003-A) from a patient with Usher syndrome due to USH2A mutation.Semantic proximity Read ↗

Generation of a human induced pluripotent stem cell line (INNDSUi003-A) derived from patient with Becker muscular dystrophy (BMD).Semantic proximity Read ↗

Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB.Semantic proximity Read ↗

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