ID   STJUDEi001-A
AC   CVCL_YT44
SY   AD2000MEMS00
DR   hPSCreg; STJUDEi001-A
DR   Wikidata; Q98132855
RX   PubMed=32485644;
CC   From: St. Jude Children's Research Hospital; Memphis; USA.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 7758; NEU1; Simple; p.Leu215Pro (c.644T>C); ClinVar=VCV000393239; Zygosity=Heterozygous (PubMed=32485644).
CC   Sequence variation: Mutation; HGNC; 7758; NEU1; Simple; p.Val217Met (c.649G>A); ClinVar=VCV000002449; 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   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).
//