ID   DHMCi002-B
AC   CVCL_UM02
SY   GCH6-6 iPS
DR   hPSCreg; DHMCi002-B
DR   Wikidata; Q93527322
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 (from autologous cell line DHMCi002-A).
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_QX40 ! DHMCi002-A
SX   Female
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
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