ID   SFC6-iPS#3.1
AC   CVCL_YM97
SY   SFC6-iPSC#3.1
DR   Wikidata; Q98132457
RX   PubMed=26411903;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+SFC6-iPS+Solicitud+de+dep%C3%B3sito.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/SFC6-iPS%2520Anexo%2520I.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
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.
ST   Source(s): BNLC
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 8,12
ST   D16S539: 11,12
ST   D21S11: 29,30
ST   D5S818: 11,14
ST   D7S820: 12
ST   TH01: 6
ST   TPOX: 11
ST   vWA: 15,16
DI   NCIt; C84899; Mucopolysaccharidosis type IIIC
DI   ORDO; Orphanet_79271; Sanfilippo syndrome type C
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YM98 ! SFC6-iPS#3.2
OI   CVCL_A9W5 ! SFC6-iPS#4.6
OI   CVCL_A9W6 ! SFC6-iPS#4.7
SX   Female
AG   4Y7M
CA   Induced pluripotent stem cell
DT   Created: 12-03-20; Last updated: 10-04-25; Version: 10
//
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).
//