Cellosaurus cell line MPSII-4.1 (CVCL

Cross-references
Cell line name	MPSII-4.1
Accession	CVCL_RK94
Resource Identification Initiative	To cite this cell line use: MPSII-4.1 (RRID:CVCL_RK94)
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.Ser61Phe (c.182C>T); ClinVar=VCV001065845; Zygosity=Hemizygous (PubMed=27789394).
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	7Y
Category	Induced pluripotent stem cell
Publications	PubMed=27789394; DOI=10.1016/j.scr.2016.09.034 Eszter Varga, Csilla Nemes, Istvan Bock, Norbert Varga, Anita Feher, Julianna Kobolak, Andras Dinnyes; Generation of mucopolysaccharidosis type II (MPS II) human induced pluripotent stem cell (iPSC) line from a 7-year-old male with pathogenic IDS mutation. Stem Cell Res. 17:463-465(2016)
Cell line databases/resources	SKIP; SKIP001290
Encyclopedic resources	Wikidata; Q54906528
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10