ID   CIRAi001-A
AC   CVCL_QX84
SY   HPS1816
DR   hPSCreg; CIRAi001-A
DR   RCB; HPS1816
DR   Wikidata; Q54813416
RX   PubMed=29034893;
CC   Sequence variation: Mutation; HGNC; 4193; GCH1; Simple; c.626+1G>C; ClinVar=VCV000529415; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=29034893).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=29034893
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 11
ST   D16S539: 9,11
ST   D18S51: 14,15
ST   D21S11: 28,31.2
ST   D3S1358: 18,20
ST   D5S818: 12
ST   D7S820: 11
ST   D8S1179: 14
ST   FGA: 22,23
ST   Penta D: 9,10
ST   Penta E: 17,18
ST   TH01: 8,9
ST   TPOX: 8,11
ST   vWA: 17
DI   NCIt; C116719; Dopa-responsive dystonia
DI   ORDO; Orphanet_255; Dopa-responsive dystonia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 11
//
RX   PubMed=29034893; DOI=10.1016/j.scr.2017.07.029;
RA   Murakami N., Ishikawa T., Kondo T., Imamura K., Tsukita K., Enami T.,
RA   Funayama M., Shibukawa R., Matsumoto S., Izumi Y., Ohta E., Obata F.,
RA   Kaji R., Inoue H.;
RT   "Establishment of DYT5 patient-specific induced pluripotent stem cells
RT   with a GCH1 mutation.";
RL   Stem Cell Res. 24:36-39(2017).
//