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Cellosaurus MPSII-mother.1 (CVCL_IJ25)

[Text version]
Cell line name MPSII-mother.1
Accession CVCL_IJ25
Resource Identification Initiative To cite this cell line use: MPSII-mother.1 (RRID:CVCL_IJ25)
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=Heterozygous (PubMed=27789401).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 39Y
Category Induced pluripotent stem cell
Publications

PubMed=27789401; DOI=10.1016/j.scr.2016.09.035
Varga E., Nemes C., Kovacs E., Bock I., Varga N., Feher A., Dinnyes A., Kobolak J.
Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of mucopolysaccharidosis type II (MPS II) disorder.
Stem Cell Res. 17:514-516(2016)

Cross-references
Cell line databases/resources SKIP; SKIP001294
Encyclopedic resources Wikidata; Q54906529
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number11