ID   SFC6-iPS#4.6
AC   CVCL_A9W5
DR   Wikidata; Q102114912
RX   PubMed=26411903;
CC   From: University of Barcelona; Barcelona; Spain.
CC   Population: Caucasian; Spanish.
CC   Sequence variation: Mutation; HGNC; 26527; HGSNAT; Simple; c.633+1G>A; dbSNP=rs528466699; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=26411903).
CC   Sequence variation: Mutation; HGNC; 26527; HGSNAT; Simple; p.Leu473Pro (c.1418T>C) (p.Leu445Pro, c.1334T>C); Zygosity=Heterozygous (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_YM97 ! SFC6-iPS#3.1
OI   CVCL_YM98 ! SFC6-iPS#3.2
OI   CVCL_A9W6 ! SFC6-iPS#4.7
SX   Female
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 7
//
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).
//