ID   MPSII-mother.1
AC   CVCL_IJ25
DR   SKIP; SKIP001294
DR   Wikidata; Q54906529
RX   PubMed=27789401;
CC   From: BioTalentum, Ltd; Godollo; Hungary.
CC   Sequence variation: Mutation; HGNC; HGNC:5389; IDS; Simple; p.Gln29Ter (c.85C>T); Zygosity=Heterozygous (PubMed=27789401).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 11
//
RX   PubMed=27789401; DOI=10.1016/j.scr.2016.09.035;
RA   Varga E., Nemes C., Kovacs E., Bock I., Varga N., Feher A.,
RA   Dinnyes A., Kobolak J.;
RT   "Generation of human induced pluripotent stem cell (iPSC) line from an
RT   unaffected female carrier of mucopolysaccharidosis type II (MPS II)
RT   disorder.";
RL   Stem Cell Res. 17:514-516(2016).
//