ID   MPSII-4.1
AC   CVCL_RK94
DR   SKIP; SKIP001290
DR   Wikidata; Q54906528
RX   PubMed=27789394;
CC   From: BioTalentum, Ltd; Godollo; Hungary.
CC   Sequence variation: Mutation; HGNC; HGNC:5389; IDS; Simple; p.Ser61Phe (c.182C>T); ClinVar=VCV001065845; Zygosity=Hemizygous (PubMed=27789394).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61260; Hunter syndrome
DI   ORDO; Orphanet_580; Mucopolysaccharidosis type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=27789394; DOI=10.1016/j.scr.2016.09.034;
RA   Varga E., Nemes C., Bock I., Varga N., Feher A., Kobolak J.,
RA   Dinnyes A.;
RT   "Generation of mucopolysaccharidosis type II (MPS II) human induced
RT   pluripotent stem cell (iPSC) line from a 7-year-old male with
RT   pathogenic IDS mutation.";
RL   Stem Cell Res. 17:463-465(2016).
//