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Cellosaurus SFC7-iPS#3.2 (CVCL_YN00)

[Text version]
Cell line name SFC7-iPS#3.2
Synonyms SFC7-iPSC#3.2
Accession CVCL_YN00
Resource Identification Initiative To cite this cell line use: SFC7-iPS#3.2 (RRID:CVCL_YN00)
Comments From: University of 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; 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_A9W7 ! SFC7-iPS#4.8
CVCL_A9W8 ! SFC7-iPS#4.9
Sex of cell Female
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=26411903; DOI=10.1016/j.stemcr.2015.08.016; PMCID=PMC4625033
Canals I., Soriano J., Orlandi J.G., Torrent R., Richaud-Patin Y., Jimenez-Delgado S., Merlin S., Follenzi A., Consiglio A., Vilageliu L., Grinberg D., Raya A.
Activity and high-order effective connectivity alterations in Sanfilippo C patient-specific neuronal networks.
Stem Cell Reports 5:546-557(2015)

Cross-references
Encyclopedic resources Wikidata; Q98132460
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number7