ID   UBi001-A-2
AC   CVCL_YM96
SY   HGSNAT2; HSGNAT-2
DR   BioSamples; SAMEA6298141
DR   hPSCreg; UBi001-A-2
DR   Wikidata; Q98133809
RX   PubMed=31731183;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+HGSNAT2+Solicitud+de+dep%C3%B3sito+v3.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/HGSNAT2%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:26527; HGSNAT; Simple_edited; p.Asn94Glyfs*15 (c.279_294del) (p.Asn66Glyfs*15, c.195_210del); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31731183).
CC   Sequence variation: Mutation; HGNC; HGNC:26527; HGSNAT; Simple_edited; p.Tyr98Ter (c.293delinsGAATG) (p.Tyr70Ter, c.209delinsGAATG); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31731183).
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; C84899; Mucopolysaccharidosis type IIIC
DI   ORDO; Orphanet_79271; Sanfilippo syndrome type C
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=31731183; DOI=10.1016/j.scr.2019.101616;
RA   Beneto N., Cozar M., Garcia-Morant M., Creus-Bachiller E.,
RA   Vilageliu L., Grinberg D., Canals I.;
RT   "Generation of two compound heterozygous HGSNAT-mutated lines from
RT   healthy induced pluripotent stem cells using CRISPR/Cas9 to model
RT   Sanfilippo C syndrome.";
RL   Stem Cell Res. 41:101616-101616(2019).
//