Cellosaurus cell line DHMCi003-A (CVCL

Cross-references
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	Mutation; HGNC; 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_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)
Cell line databases/resources	hPSCreg; DHMCi003-A
Encyclopedic resources	Wikidata; Q93527328
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	10