ID   DHMCi002-A
AC   CVCL_QX40
SY   HDMC0061i-GCH1; GCH6-1 iPS
DR   hPSCreg; DHMCi002-A
DR   Wikidata; Q54882187
RX   PubMed=28395739;
CC   From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
CC   Sequence variation: Mutation; HGNC; 4193; GCH1; Simple; p.Leu79_Ser80del (c.235_240del); Zygosity=Heterozygous (PubMed=28395739).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C141442; GTP cyclohydrolase I deficiency
DI   ORDO; Orphanet_98808; Autosomal dominant dopa-responsive dystonia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UM02 ! DHMCi002-B
SX   Female
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 10
//
RX   PubMed=28395739; DOI=10.1016/j.scr.2017.02.010;
RA   Jung-Klawitter S., Ebersold J., Gohring G., Blau N., Opladen T.;
RT   "Generation of an iPSC line from a patient with GTP cyclohydrolase 1
RT   (GCH1) deficiency: HDMC0061i-GCH1.";
RL   Stem Cell Res. 20:38-41(2017).
//