ID   HMGUi004-A
AC   CVCL_C9D6
SY   106300
DR   BioSamples; SAMEA113476113
DR   hPSCreg; HMGUi004-A
DR   Wikidata; Q123031678
RX   PubMed=37689041;
CC   From: Helmholtz Zentrum Munchen; Neuherberg; Germany.
CC   Sequence variation: Mutation; HGNC; 25443; C19orf12; Simple; p.Gly54Val (c.161G>T); ClinVar=VCV000402183; Zygosity=Homozygous (PubMed=37689041).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C175707; Neurodegeneration with brain iron accumulation 4
DI   ORDO; Orphanet_289560; Mitochondrial membrane protein-associated neurodegeneration
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37689041; DOI=10.1016/j.scr.2023.103197;
RA   Zanuttigh E., Rusha E., Peron C., Brunetti D., Zorzi G., Pertek A.,
RA   Nteli P., Winkelmann J., Tiranti V., Iuso A.;
RT   "Generation of two human iPSC lines, HMGUi004-A and FINCBi004-A, from
RT   fibroblasts of MPAN patients carrying pathogenic recessive mutations
RT   in the gene C19orf12.";
RL   Stem Cell Res. 72:103197-103197(2023).
//