ID   DHMCi003-B
AC   CVCL_UM04
SY   DNAJC12-1 iPS 10
DR   hPSCreg; DHMCi003-B
DR   Wikidata; Q93527333
RX   PubMed=30901742;
CC   From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; 28908; DNAJC12; Simple; p.Arg72Pro (c.215G>C); ClinVar=VCV000393302; Zygosity=Homozygous (PubMed=30901742).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C159654; Mild non-BH4-deficient hyperphenylalaninemia
DI   ORDO; Orphanet_508523; Hyperphenylalaninemia due to DNAJC12 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_UM03 ! DHMCi003-A
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=30901742; DOI=10.1016/j.scr.2019.101402;
RA   Jung-Klawitter S., Wachter S., Hagedorn M., Ebersold J., Gohring G.,
RA   Opladen T.;
RT   "Generation of 2 iPSC clones from a patient with DNAJC12 deficiency:
RT   DHMCi003-A and DHMCi003-B.";
RL   Stem Cell Res. 36:101402-101402(2019).
//