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Cellosaurus DHMCi002-B (CVCL_UM02)

[Text version]

Cell line name DHMCi002-B
Synonyms GCH6-6 iPS
Accession CVCL_UM02
Resource Identification Initiative To cite this cell line use: DHMCi002-B (RRID:CVCL_UM02)
Comments From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
Derived from sampling site: Fibroblast.
Sequence variations Mutation; HGNC; 4193; GCH1; Simple; p.Leu79_Ser80del (c.235_240del); Zygosity=Heterozygous (from autologous cell line).
Disease GTP cyclohydrolase I deficiency (NCIt: C141442)
Autosomal dominant dopa-responsive dystonia (ORDO: Orphanet_98808)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_QX40 ! DHMCi002-A
Sex of cell Female
Age at sampling 7Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; DHMCi002-B
Other Wikidata; Q93527322
Entry history
Entry creation25-Feb-2019
Last entry update20-May-2021
Version number5