ID   STJUDEi003-A
AC   CVCL_YT46
SY   279
DR   hPSCreg; STJUDEi003-A
DR   Wikidata; Q98132857
RX   PubMed=32485644;
CC   From: St. Jude Children's Research Hospital; Memphis; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7758; NEU1; Simple; p.Gly227Arg (c.679G>A); ClinVar=VCV000430342; Zygosity=Heterozygous (PubMed=32485644).
CC   Sequence variation: Mutation; HGNC; 7758; NEU1; Simple; p.His399_Tyr400dup (c.1195_1200dup); Zygosity=Heterozygous (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_812; Sialidosis type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   15-19Y
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).
//