ID   UBi001-A-3
AC   CVCL_YN11
SY   NAGLU3
DR   hPSCreg; UBi001-A-3
DR   Wikidata; Q98133810
RX   PubMed=31825816;
CC   From: University of Barcelona; Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; 7632; NAGLU; Simple_edited; p.Phe288_Ile290del; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=31825816).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84898; Mucopolysaccharidosis type IIIB
DI   ORDO; Orphanet_79270; Sanfilippo syndrome type B
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_YM94 ! UBi001-A
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31825816; DOI=10.1016/j.scr.2019.101668;
RA   Beneto N., Cozar M., Gort L., Pacheco L., Vilageliu L., Grinberg D.,
RA   Canals I.;
RT   "Generation of two NAGLU-mutated homozygous cell lines from healthy
RT   induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B
RT   syndrome.";
RL   Stem Cell Res. 42:101668-101668(2020).
//