ID   IUFi002-A
AC   CVCL_C6Q5
SY   DU179R
DR   BioSamples; SAMEA111528658
DR   hPSCreg; IUFi002-A
DR   Wikidata; Q117704563
RX   PubMed=36403546;
CC   From: Leibniz Research Institute for Environmental Medicine; Dusseldorf; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:7707; NDUFS1; Simple; p.Arg557Ter (c.1671C>T); ClinVar=VCV000050923; Zygosity=Heterozygous (PubMed=36403546).
CC   Sequence variation: Mutation; HGNC; HGNC:7707; NDUFS1; Simple; p.Asp618Asn (c.1854G>A); Zygosity=Heterozygous (PubMed=36403546).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   1Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=36403546; DOI=10.1016/j.scr.2022.102971;
RA   Valente, Onofrio
RA   Dobner, Jochen
RA   Ramachandran, Haribaskar
RA   Hildebrandt, Barbara
RA   Distelmaier, Felix
RA   Ventura, Natascia
RA   Rossi, Andrea
RT   "Generation of an induced pluripotent stem cell line (IUFi002-A) from
RT   a Leigh syndrome patient carrying mutations in the NDUFS1 gene.";
RL   Stem Cell Res. 65:102971-102971(2022).
//