ID   STJUDEi002-A
AC   CVCL_YT45
SY   GSL079
DR   hPSCreg; STJUDEi002-A
DR   Wikidata; Q98132856
RX   PubMed=32485644;
CC   From: St. Jude Children's Research Hospital; Memphis; USA.
CC   Population: Hispanic.
CC   Sequence variation: Mutation; HGNC; 7758; NEU1; Simple; p.Tyr370Cys (c.1109A>G); ClinVar=VCV000986732; Zygosity=Homozygous (PubMed=32485644).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125596; Neuraminidase deficiency
DI   ORDO; Orphanet_87876; Sialidosis type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Children
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=32485644; DOI=10.1016/j.scr.2020.101836;
RA   Han M.-J., Annunziata I., Weesner J., Campos Y., Salie M., O'Reilly C.,
RA   d'Azzo A.;
RT   "Generation of human induced pluripotent stem cells (hIPSCs) from
RT   sialidosis types I and II patients with pathogenic neuraminidase 1
RT   mutations.";
RL   Stem Cell Res. 46:101836-101836(2020).
//