ID   SFC6-iPS#4.6
AC   CVCL_A9W5
DR   Wikidata; Q102114912
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.633+1G>A; dbSNP=rs528466699; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=26411903).
CC   Sequence variation: Mutation; HGNC; 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   4Y7M
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 10-04-25; Version: 9
//
RX   PubMed=26411903; DOI=10.1016/j.stemcr.2015.08.016; PMCID=PMC4625033;
RA   Canals, Isaac
RA   Soriano, Jordi
RA   Orlandi, Javier G.
RA   Torrent, Roger
RA   Richaud-Patin, Yvonne
RA   Jimenez-Delgado, Senda
RA   Merlin, Simone
RA   Follenzi, Antonia
RA   Consiglio, Antonella
RA   Vilageliu, Lluisa
RA   Grinberg, Daniel
RA   Raya, Angel
RT   "Activity and high-order effective connectivity alterations in
RT   Sanfilippo C patient-specific neuronal networks.";
RL   Stem Cell Reports 5:546-557(2015).
//