ID   UBi001-A-3
AC   CVCL_YN11
SY   NAGLU3; NAGLU-3
DR   hPSCreg; UBi001-A-3
DR   Wikidata; Q98133810
RX   PubMed=31825816;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+NAGLU3+Solicitud+de+dep%C3%B3sito-v3.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/NAGLU3%2520Anexo.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Universidad Autonoma de Barcelona; Barcelona; Spain.
CC   Sequence variation: Mutation; HGNC; HGNC:7632; NAGLU; Simple_edited; p.Phe288_Ile290del; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=31825816).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X,Y
ST   CSF1PO: 10,13
ST   D13S317: 12
ST   D16S539: 11,13
ST   D21S11: 29
ST   D5S818: 12
ST   D7S820: 10,13
ST   TH01: 8,9
ST   TPOX: 9,11
ST   vWA: 17
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: 10-04-25; Version: 10
//
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).
//