ID   KUCFRi003-A
AC   CVCL_A8WI
SY   GM03672 iPSC
DR   hPSCreg; KUCFRi003-A
DR   Wikidata; Q108820632
RX   PubMed=34091428;
CC   From: Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University; Seoul; South Korea.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7427; MT-CYB; Simple; p.Asp171Asn (m.15257G>A); ClinVar=VCV000009674; Zygosity=Heteroplasmic (PubMed=34091428).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84814; Leigh disease
DI   ORDO; Orphanet_506; Leigh syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_8A60 ! GM03672
SX   Female
AG   1Y4M
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=34091428; DOI=10.1016/j.scr.2021.102392;
RA   Son D., Zheng J., Kim I.Y., You S.;
RT   "Self-replicative mRNA-mediated generation of induced pluripotent stem
RT   cell line from a 1-year-old Leigh syndrome patient with mitochondrial
RT   DNA cytochrome b mutation.";
RL   Stem Cell Res. 54:102392-102392(2021).
//