Cellosaurus logo
expasy logo

Cellosaurus SFC6-iPS#3.1 (CVCL_YM97)

[Text version]
Cell line name SFC6-iPS#3.1
Synonyms SFC6-iPSC#3.1
Accession CVCL_YM97
Resource Identification Initiative To cite this cell line use: SFC6-iPS#3.1 (RRID:CVCL_YM97)
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; HGNC:26527; HGSNAT; Simple; c.633+1G>A; dbSNP=rs528466699; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=26411903).
  • Mutation; HGNC; HGNC:26527; HGSNAT; Simple; p.Leu473Pro (c.1418T>C) (p.Leu445Pro, c.1334T>C); Zygosity=Heterozygous (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_YM98 ! SFC6-iPS#3.2
CVCL_A9W5 ! SFC6-iPS#4.6
CVCL_A9W6 ! SFC6-iPS#4.7
Sex of cell Female
Age at sampling 16Y
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; Q98132457
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9