ID   SFC7-iPS#3.2
AC   CVCL_YN00
SY   SFC7-iPSC#3.2
DR   Wikidata; Q98132460
RX   PubMed=26411903;
CC   From: Universidad Autonoma de Barcelona; Barcelona; Spain.
CC   Population: Caucasian; Spanish.
CC   Sequence variation: Mutation; HGNC; HGNC:26527; HGSNAT; Simple; c.372-2A>G; ClinVar=VCV000001236; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=26411903).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84899; Mucopolysaccharidosis type IIIC
DI   ORDO; Orphanet_79271; Sanfilippo syndrome type C
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YM99 ! SFC7-iPS#3.1
OI   CVCL_A9W7 ! SFC7-iPS#4.8
OI   CVCL_A9W8 ! SFC7-iPS#4.9
SX   Female
AG   9Y
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 10-04-25; Version: 9
//
RX   PubMed=26411903; DOI=10.1016/j.stemcr.2015.08.016; PMCID=PMC4625033;
RA   Canals I., Soriano J., Orlandi J.G., Torrent R., Richaud-Patin Y.,
RA   Jimenez-Delgado S., Merlin S., Follenzi A., Consiglio A.,
RA   Vilageliu L., Grinberg D., Raya A.;
RT   "Activity and high-order effective connectivity alterations in
RT   Sanfilippo C patient-specific neuronal networks.";
RL   Stem Cell Reports 5:546-557(2015).
//