Cellosaurus logo
expasy logo

Cellosaurus MPSII-mother.1 (CVCL_IJ25)

[Text][XML][JSON]
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
Eszter Varga, Csilla Nemes, Eszter Kovacs, Istvan Bock, Norbert Varga, Anita Feher, Andras Dinnyes, Julianna Kobolak;
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