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, Ewelina
RA   Dobosz, Aneta Maria
RA   Liszewska, Ewa
RA   Majchrowicz, Lena
RA   Dobrzyn, Agnieszka
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).
//