ID   UOMi002-A
AC   CVCL_ZA82
SY   LCS-hiPSC-PT2; C1 iPSC
DR   hPSCreg; UOMi002-A
DR   Wikidata; Q98134318
RX   PubMed=32871395;
RX   PubMed=33807701;
CC   From: University of Manitoba; Winnipeg; Canada.
CC   Population: Caucasian; Mennonite.
CC   Sequence variation: Mutation; HGNC; 7716; NDUFV1; Simple; p.Tyr177Leufs*1 (c.529dupT); Zygosity=Heterozygous (PubMed=32871395).
CC   Sequence variation: Mutation; HGNC; 7716; NDUFV1; Simple; p.Glu214Lys (c.640G>A); ClinVar=VCV000014059; Zygosity=Heterozygous (PubMed=32871395).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84814; Leigh disease
DI   ORDO; Orphanet_506; Leigh syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   2-3Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32871395; DOI=10.1016/j.scr.2020.101964;
RA   Sequiera G.L., Rockman-Greenberg C., Dhingra S.;
RT   "Induced pluripotent stem cell line UOMi002-A from a patient with
RT   Leigh syndrome with compound heterozygous mutations in the NDUFV1
RT   gene.";
RL   Stem Cell Res. 48:101964-101964(2020).
//
RX   PubMed=33807701; DOI=10.3390/cells10030568;
RA   Sequiera G.L., Srivastava A., Alagarsamy K.N.,
RA   Rockman-Greenberg C., Dhingra S.;
RT   "Generation and evaluation of isogenic iPSC as a source of cell
RT   replacement therapies in patients with Kearns Sayre syndrome.";
RL   Cells 10:568.1-568.15(2021).
//