ID   NENCKIi004-A
AC   CVCL_E4HI
SY   MPAN-22.3
DR   BioSamples; SAMEA115779529
DR   hPSCreg; NENCKIi004-A
RX   PubMed=39489009;
CC   From: Nencki Institute of Experimental Biology PAS; Warsaw; Poland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:25443; C19orf12; Simple; p.Gly58Argfs*10 (c.171_181del11) (p.Gly69Argfs*10, c.204_214del11); ClinVar=VCV000031155; Zygosity=Homozygous (PubMed=39489009).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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   Male
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39489009; DOI=10.1016/j.scr.2024.103603;
RA   Krogulec E., Dobosz A.M., Liszewska E., Majchrowicz L., Dobrzyn A.;
RT   "Generation of four human induced pluripotent stem cell lines derived
RT   from patients with MPAN, subtype of NBIA, carrying the c.204_214del11
RT   mutation in the C19orf12 gene.";
RL   Stem Cell Res. 81:103603-103603(2024).
//