ID   IBMS-iPSC-060-04
AC   CVCL_A1MB
SY   IBMSi024-A
DR   BioSamples; SAMEA7440417
DR   hPSCreg; IBMSi024-A
DR   Wikidata; Q102114194
RX   PubMed=33068888;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 25443; C19orf12; Simple; p.Pro92Thrfs*9 (c.273_274insA); Zygosity=Heterozygous (PubMed=33068888).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   68Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 29-06-23; Version: 5
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RX   PubMed=33068888; DOI=10.1016/j.scr.2020.102032;
RA   Lin H.-Y., Ou-Yang C.-H., Lin C.-H.;
RT   "Reprogramming of a human induced pluripotent stem cell (iPSC) line
RT   from a patient with neurodegeneration with brain iron accumulation
RT   (NBIA) harboring a novel frameshift mutation in C19orf12 gene.";
RL   Stem Cell Res. 49:102032-102032(2020).
//