Cellosaurus cell line DHMCi003-B (CVCL_UM04)

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Cell line name	DHMCi003-B
Synonyms	DNAJC12-1 iPS 10
Accession	CVCL_UM04
Resource Identification Initiative	To cite this cell line use: DHMCi003-B (RRID:CVCL_UM04)
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	Mutation; HGNC; 28908; DNAJC12; Simple; p.Arg72Pro (c.215G>C); ClinVar=VCV000393302; Zygosity=Homozygous (PubMed=30901742).
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_UM03 ! DHMCi003-A
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)
Cell line databases/resources	hPSCreg; DHMCi003-B
Encyclopedic resources	Wikidata; Q93527333
Entry history
Entry creation	25-Feb-2019
Last entry update	29-Jun-2023
Version number	9