Cellosaurus cell line IBMS-iPSC-089 (CVCL

Cross-references
Cell line name	IBMS-iPSC-089
Synonyms	NTUHi004-A
Accession	CVCL_D6NY
Resource Identification Initiative	To cite this cell line use: IBMS-iPSC-089 (RRID:CVCL_D6NY)
Comments	From: Institute of Biomedical Sciences, Academia Sinica; Taipei; Taiwan. Population: Chinese; Taiwan. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 15899; NDUFAF5; Simple; p.Met279Arg (c.836T>G); ClinVar=VCV000225036; Zygosity=Homozygous (PubMed=38458030).
Disease	Leigh disease (NCIt: C84814) NADH dehydrogenase deficiency (NCIt: C98994) Isolated complex I deficiency (ORDO: Orphanet_2609) Leigh syndrome (ORDO: Orphanet_506)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	47Y
Category	Induced pluripotent stem cell
Publications	PubMed=38458030; DOI=10.1016/j.scr.2024.103379 Ou-Yang C.-H., Chen P.-S., Lin C.-H. Generation of a human induced pluripotent stem cell line NTUHi004-A from a patient with Leigh syndrome harboring a homozygous missense mutation c.836 T > G (p.Met279Arg) in NDUFAF5 gene. Stem Cell Res. 76:103379-103379(2024)
Cell line databases/resources	hPSCreg; NTUHi004-A
Biological sample resources	BioSamples; SAMEA114482263
Entry history
Entry creation	10-Sep-2024
Last entry update	10-Sep-2024
Version number	1