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Cellosaurus STJUDEi002-A (CVCL_YT45)

[Text version]
Cell line name STJUDEi002-A
Synonyms GSL079
Accession CVCL_YT45
Resource Identification Initiative To cite this cell line use: STJUDEi002-A (RRID:CVCL_YT45)
Comments From: St. Jude Children's Research Hospital; Memphis; USA.
Population: Hispanic.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 7758; NEU1; Simple; p.Tyr370Cys (c.1109A>G); ClinVar=VCV000986732; Zygosity=Homozygous (PubMed=32485644).
Disease Neuraminidase deficiency (NCIt: C125596)
Sialidosis type 2 (ORDO: Orphanet_87876)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Children
Category Induced pluripotent stem cell
Publications

PubMed=32485644; DOI=10.1016/j.scr.2020.101836
Han M.-J., Annunziata I., Weesner J., Campos Y., Salie M., O'Reilly C., d'Azzo A.
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; STJUDEi002-A
Encyclopedic resources Wikidata; Q98132856
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number8