ID   MPSII-1.3
AC   CVCL_IJ23
DR   SKIP; SKIP001293
DR   Wikidata; Q54906521
RX   PubMed=27789399;
CC   From: BioTalentum, Ltd; Godollo; Hungary.
CC   Sequence variation: Mutation; HGNC; HGNC:5389; IDS; Simple; p.Gln29Ter (c.85C>T); Zygosity=Hemizygous (PubMed=27789399).
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   1Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 12
//
RX   PubMed=27789399; DOI=10.1016/j.scr.2016.09.033;
RA   Varga E., Nemes C., Bock I., Varga N., Feher A., Dinnyes A.,
RA   Kobolak J.;
RT   "Generation of Mucopolysaccharidosis type II (MPS II) human induced
RT   pluripotent stem cell (iPSC) line from a 1-year-old male with
RT   pathogenic IDS mutation.";
RL   Stem Cell Res. 17:482-484(2016).
//