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Cellosaurus STJUDEi003-A (CVCL_YT46)

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Cell line name STJUDEi003-A
Synonyms 279
Accession CVCL_YT46
Resource Identification Initiative To cite this cell line use: STJUDEi003-A (RRID:CVCL_YT46)
Comments From: St. Jude Children's Research Hospital; Memphis; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7758; NEU1; Simple; p.Gly227Arg (c.679G>A); ClinVar=VCV000430342; Zygosity=Heterozygous (PubMed=32485644).
  • Mutation; HGNC; HGNC:7758; NEU1; Simple; p.His399_Tyr400dup (c.1195_1200dup); Zygosity=Heterozygous (PubMed=32485644).
Disease Neuraminidase deficiency (NCIt: C125596)
Sialidosis type 1 (ORDO: Orphanet_812)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 15-19Y
Category Induced pluripotent stem cell
Publications

PubMed=32485644; DOI=10.1016/j.scr.2020.101836; PMCID=PMC7446138
Min-Joon Han, Ida Annunziata, Jason Andrew Weesner, Yvan Campos, Muneeb Salie, Carla O'Reilly, Alessandra d'Azzo;
Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations.
Stem Cell Res. 46:101836-101836(2020)

Cross-references
Cell line databases/resources hPSCreg; STJUDEi003-A
Encyclopedic resources Wikidata; Q98132857
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9