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Cellosaurus UBi001-A-2 (CVCL_YM96)

[Text version]
Cell line name UBi001-A-2
Synonyms HGSNAT2
Accession CVCL_YM96
Resource Identification Initiative To cite this cell line use: UBi001-A-2 (RRID:CVCL_YM96)
Comments From: University of Barcelona; Barcelona; Spain.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 26527; HGSNAT; Simple_edited; p.Asn94Glyfs*15 (c.279_294del) (p.Asn66Glyfs*15, c.195_210del); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31731183).
  • Mutation; HGNC; 26527; HGSNAT; Simple_edited; p.Tyr98Ter (c.293delinsGAATG) (p.Tyr70Ter, c.209delinsGAATG); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=31731183).
Disease Mucopolysaccharidosis type IIIC (NCIt: C84899)
Sanfilippo syndrome type C (ORDO: Orphanet_79271)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_YM94 (UBi001-A)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=31731183; DOI=10.1016/j.scr.2019.101616
Beneto N., Cozar M., Garcia-Morant M., Creus-Bachiller E., Vilageliu L., Grinberg D., Canals I.
Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome.
Stem Cell Res. 41:101616-101616(2019)

Cross-references
Cell line databases/resources hPSCreg; UBi001-A-2
Biological sample resources BioSamples; SAMEA6298141
Encyclopedic resources Wikidata; Q98133809
Entry history
Entry creation12-Mar-2020
Last entry update29-Jun-2023
Version number8