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Cellosaurus MPSII-1.3 (CVCL_IJ23)

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Cell line name MPSII-1.3
Accession CVCL_IJ23
Resource Identification Initiative To cite this cell line use: MPSII-1.3 (RRID:CVCL_IJ23)
Comments From: BioTalentum, Ltd; Godollo; Hungary.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:5389; IDS; Simple; p.Gln29Ter (c.85C>T); Zygosity=Hemizygous (PubMed=27789399).
Disease Hunter syndrome (NCIt: C61260)
Mucopolysaccharidosis type 2 (ORDO: Orphanet_580)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=27789399; DOI=10.1016/j.scr.2016.09.033
Eszter Varga, Csilla Nemes, Istvan Bock, Norbert Varga, Anita Feher, Andras Dinnyes, Julianna Kobolak;
Generation of mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 1-year-old male with pathogenic IDS mutation.
Stem Cell Res. 17:482-484(2016)

Cross-references
Cell line databases/resources SKIP; SKIP001293
Encyclopedic resources Wikidata; Q54906521
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12