Cellosaurus cell line SFC7-iPS#4.9 (CVCL

Cross-references
Cell line name	SFC7-iPS#4.9
Accession	CVCL_A9W8
Resource Identification Initiative	To cite this cell line use: SFC7-iPS#4.9 (RRID:CVCL_A9W8)
Comments	From: Universidad Autonoma de Barcelona; Barcelona; Spain. Population: Caucasian; Spanish. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:26527; HGSNAT; Simple; c.372-2A>G; ClinVar=VCV000001236; Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=26411903).
Disease	Mucopolysaccharidosis type IIIC (NCIt: C84899) Sanfilippo syndrome type C (ORDO: Orphanet_79271)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_YM99 ! SFC7-iPS#3.1 CVCL_YN00 ! SFC7-iPS#3.2 CVCL_A9W7 ! SFC7-iPS#4.8
Sex of cell	Female
Age at sampling	9Y
Category	Induced pluripotent stem cell
Publications	PubMed=26411903; DOI=10.1016/j.stemcr.2015.08.016; PMCID=PMC4625033 Isaac Canals, Jordi Soriano, Javier G. Orlandi, Roger Torrent, Yvonne Richaud-Patin, Senda Jimenez-Delgado, Simone Merlin, Antonia Follenzi, Antonella Consiglio, Lluisa Vilageliu, Daniel Grinberg, Angel Raya; Activity and high-order effective connectivity alterations in Sanfilippo C patient-specific neuronal networks. Stem Cell Reports 5:546-557(2015)
Encyclopedic resources	Wikidata; Q102114916
Entry history
Entry creation	29-Oct-2020
Last entry update	10-Apr-2025
Version number	8