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Cellosaurus DHMCi003-A (CVCL_UM03)

[Text version]
Cell line name DHMCi003-A
Synonyms DNAJC12-1 iPS 6
Accession CVCL_UM03
Resource Identification Initiative To cite this cell line use: DHMCi003-A (RRID:CVCL_UM03)
Comments From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
Population: Turkish.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
Disease Mild non-BH4-deficient hyperphenylalaninemia (NCIt: C159654)
Hyperphenylalaninemia due to DNAJC12 deficiency (ORDO: Orphanet_508523)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_UM04 ! DHMCi003-B
Sex of cell Male
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=30901742; DOI=10.1016/j.scr.2019.101402
Jung-Klawitter S., Wachter S., Hagedorn M., Ebersold J., Gohring G., Opladen T.
Generation of 2 iPSC clones from a patient with DNAJC12 deficiency: DHMCi003-A and DHMCi003-B.
Stem Cell Res. 36:101402-101402(2019)

Cross-references
Cell line databases/resources hPSCreg; DHMCi003-A
Encyclopedic resources Wikidata; Q93527328
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number9