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Cellosaurus DHMCi002-A (CVCL_QX40)

[Text version]

Cell line name DHMCi002-A
Synonyms HDMC0061i-GCH1; GCH6-1 iPS
Accession CVCL_QX40
Resource Identification Initiative To cite this cell line use: DHMCi002-A (RRID:CVCL_QX40)
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 (PubMed=28395739).
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_UM02 ! DHMCi002-B
Sex of cell Female
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=28395739; DOI=10.1016/j.scr.2017.02.010
Jung-Klawitter S., Ebersold J., Gohring G., Blau N., Opladen T.
Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1.
Stem Cell Res. 20:38-41(2017)

Cross-references
Cell line databases/resources hPSCreg; DHMCi002-A
Other Wikidata; Q54882187
Entry history
Entry creation15-Nov-2017
Last entry update20-May-2021
Version number7