ID   DHMCi001-A
AC   CVCL_UM01
SY   TH-1 iPSC
DR   BioSamples; SAMEA5341048
DR   hPSCreg; DHMCi001-A
DR   Wikidata; Q93527298
RX   PubMed=27934587;
CC   From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
CC   Sequence variation: Mutation; HGNC; 11782; TH; Simple; p.Arg129Ter (c.385C>T) (p.Arg98Ter, c.292C>T); ClinVar=VCV000374732; Zygosity=Heterozygous (PubMed=27934587).
CC   Sequence variation: Mutation; HGNC; 11782; TH; Simple; p.Arg231Pro (c.692G>C); Zygosity=Heterozygous (PubMed=27934587).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C157158; Tyrosine hydroxylase deficiency
DI   ORDO; Orphanet_101150; Autosomal recessive dopa-responsive dystonia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=27934587; DOI=10.1016/j.scr.2016.10.008;
RA   Jung-Klawitter S., Blau N., Sebe A., Ebersold J., Gohring G.,
RA   Opladen T.;
RT   "Generation of an iPSC line from a patient with tyrosine hydroxylase
RT   (TH) deficiency: TH-1 iPSC.";
RL   Stem Cell Res. 17:580-583(2016).
//