Cellosaurus cell line UOMi001-A (CVCL

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 site: In situ; Peripheral blood; UBERON=UBERON_0000178.

Sequence variations

Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Ala173Val (c.518C>T); ClinVar=VCV000377257; Zygosity=Heterozygous (PubMed=32777769).
Mutation; HGNC; HGNC:3151; ECHS1; Simple; p.Lys284Profs*31 (c.849_852delAAAG); dbSNP=rs1414662857; Zygosity=Heterozygous (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:

Amelogenin	X,Y
CSF1PO	10,11
D5S818	11
D7S820	10,12
D13S317	8,9
D16S539	11,13
D21S11	28,31.2
TH01	6,9.3
TPOX	8
vWA	16,17

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

Encyclopedic resources

Wikidata; Q98134316

Entry history

Entry creation

02-Jul-2020

Last entry update

19-Dec-2024

Version number