ID   IBMS-iPSC-089
AC   CVCL_D6NY
SY   NTUHi004-A
DR   BioSamples; SAMEA114482263
DR   hPSCreg; NTUHi004-A
RX   PubMed=38458030;
CC   From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 15899; NDUFAF5; Simple; p.Met279Arg (c.836T>G); ClinVar=VCV000225036; Zygosity=Homozygous (PubMed=38458030).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84814; Leigh disease
DI   NCIt; C98994; NADH dehydrogenase deficiency
DI   ORDO; Orphanet_2609; Isolated complex I deficiency
DI   ORDO; Orphanet_506; Leigh syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38458030; DOI=10.1016/j.scr.2024.103379;
RA   Ou-Yang C.-H., Chen P.-S., Lin C.-H.;
RT   "Generation of a human induced pluripotent stem cell line NTUHi004-A
RT   from a patient with Leigh syndrome harboring a homozygous missense
RT   mutation c.836 T > G (p.Met279Arg) in NDUFAF5 gene.";
RL   Stem Cell Res. 76:103379-103379(2024).
//