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Cellosaurus STJUDEi001-A (CVCL_YT44)

[Text version]

Cell line name STJUDEi001-A
Synonyms AD2000MEMS00
Accession CVCL_YT44
Resource Identification Initiative To cite this cell line use: STJUDEi001-A (RRID:CVCL_YT44)
Comments From: St. Jude Children's Research Hospital; Memphis; USA.
Population: African American.
Sequence variations Heterozygous for NEU1 p.Leu215Pro (c.644T>C) (ClinVar=VCV000393239) and p.Val217Met (c.649G>A) (ClinVar=VCV000002449) (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 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; STJUDEi001-A
Entry history
Entry creation12-Mar-2020
Last entry update02-Jul-2020
Version number2