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Cellosaurus UOMi001-A (CVCL_ZA81)

[Text version]

Cell line name UOMi001-A
Synonyms LCS-hiPSC-PT5
Accession CVCL_ZA81
Resource Identification Initiative To cite this cell line use: UOMi001-A (RRID:CVCL_ZA81)
Comments From: University of Manitoba; Winnipeg; Canada.
Population: Caucasian; Mennonite.
Derived from sampling site: Peripheral blood.
Sequence variations Heterozygous for ECHS1 p.Ala173Val (c.518C>T) (ClinVar=VCV000377257) (PubMed=32777769).
Heterozygous for ECHS1 p.Lys284Profs*31 (c.849_852delAAAG) (dbSNP=rs1414662857) (PubMed=32777769).
Disease Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency (NCIt: C174218)
Leigh syndrome with leukodystrophy (ORDO: Orphanet_255241)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 13Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32777769

Markers:
AmelogeninX,Y
CSF1PO10,11
D5S81811
D7S82010,12
D13S3178,9
D16S53911,13
D21S1128,31.2
TH016,9.3
TPOX8
vWA16,17

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Publications

PubMed=32777769; DOI=10.1016/j.scr.2020.101934
Sequiera G.L., Rockman-Greenberg C., Dhingra S.
Generation of human induced pluripotent stem cell (hiPSC) line UOMi001-A from a patient with Leigh-like syndrome harbouring compound heterozygous variants in ECHS1 gene.
Stem Cell Res. 48:101934-101934(2020)

Cross-references
Cell line databases/resources hPSCreg; UOMi001-A
Biological sample resources BioSamples; SAMEA6877855
Other Wikidata; Q98134316
Entry history
Entry creation02-Jul-2020
Last entry update12-Jan-2021
Version number3