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Cellosaurus UBi001-A-4 (CVCL_YN12)

[Text version]
Cell line name UBi001-A-4
Synonyms NAGLU4
Accession CVCL_YN12
Resource Identification Initiative To cite this cell line use: UBi001-A-4 (RRID:CVCL_YN12)
Comments From: University of Barcelona; Barcelona; Spain.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:7632; NAGLU; Simple_edited; p.Phe288Ilefs*27; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=31825816).
Disease Mucopolysaccharidosis type IIIB (NCIt: C84898)
Sanfilippo syndrome type B (ORDO: Orphanet_79270)
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=31825816; DOI=10.1016/j.scr.2019.101668
Beneto N., Cozar M., Gort L., Pacheco L., Vilageliu L., Grinberg D., Canals I.
Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome.
Stem Cell Res. 42:101668-101668(2020)

Cross-references
Cell line databases/resources hPSCreg; UBi001-A-4
Encyclopedic resources Wikidata; Q98133811
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9