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Cellosaurus DHMCi001-A (CVCL_UM01)

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Cell line name DHMCi001-A
Synonyms TH-1 iPSC
Accession CVCL_UM01
Resource Identification Initiative To cite this cell line use: DHMCi001-A (RRID:CVCL_UM01)
Comments From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:11782; TH; Simple; p.Arg129Ter (c.385C>T) (p.Arg98Ter, c.292C>T); ClinVar=VCV000374732; Zygosity=Heterozygous (PubMed=27934587).
  • Mutation; HGNC; HGNC:11782; TH; Simple; p.Arg231Pro (c.692G>C); Zygosity=Heterozygous (PubMed=27934587).
Disease Tyrosine hydroxylase deficiency (NCIt: C157158)
Autosomal recessive dopa-responsive dystonia (ORDO: Orphanet_101150)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=27934587; DOI=10.1016/j.scr.2016.10.008
Sabine Jung-Klawitter, Nenad Blau, Attila Sebe, Juliane Ebersold, Gudrun Gohring, Thomas Opladen;
Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC.
Stem Cell Res. 17:580-583(2016)

Cross-references
Cell line databases/resources hPSCreg; DHMCi001-A
Biological sample resources BioSamples; SAMEA5341048
Encyclopedic resources Wikidata; Q93527298
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number10