ID   UOMi001-A
AC   CVCL_ZA81
SY   LCS-hiPSC-PT5
DR   BioSamples; SAMEA6877855
DR   hPSCreg; UOMi001-A
DR   Wikidata; Q98134316
RX   PubMed=32777769;
CC   From: University of Manitoba; Winnipeg; Canada.
CC   Population: Caucasian; Mennonite.
CC   Sequence variation: Mutation; HGNC; 3151; ECHS1; Simple; p.Ala173Val (c.518C>T); ClinVar=VCV000377257; Zygosity=Heterozygous (PubMed=32777769).
CC   Sequence variation: Mutation; HGNC; 3151; ECHS1; Simple; p.Lys284Profs*31 (c.849_852delAAAG); dbSNP=rs1414662857; Zygosity=Heterozygous (PubMed=32777769).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=32777769
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 8,9
ST   D16S539: 11,13
ST   D21S11: 28,31.2
ST   D5S818: 11
ST   D7S820: 10,12
ST   TH01: 6,9.3
ST   TPOX: 8
ST   vWA: 16,17
DI   NCIt; C174218; Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency
DI   ORDO; Orphanet_255241; Leigh syndrome with leukodystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32777769; DOI=10.1016/j.scr.2020.101934;
RA   Sequiera G.L., Rockman-Greenberg C., Dhingra S.;
RT   "Generation of human induced pluripotent stem cell (hiPSC) line
RT   UOMi001-A from a patient with Leigh-like syndrome harbouring compound
RT   heterozygous variants in ECHS1 gene.";
RL   Stem Cell Res. 48:101934-101934(2020).
//