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Cellosaurus UOMi002-A (CVCL_ZA82)

[Text version]

Cell line name UOMi002-A
Synonyms LCS-hiPSC-PT2; C1 iPSC
Accession CVCL_ZA82
Resource Identification Initiative To cite this cell line use: UOMi002-A (RRID:CVCL_ZA82)
Comments From: University of Manitoba; Winnipeg; Canada.
Population: Caucasian; Mennonite.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 7716; NDUFV1; Simple; p.Tyr177Leufs*1 (c.529dupT); Zygosity=Heterozygous (PubMed=32871395).
  • Mutation; HGNC; 7716; NDUFV1; Simple; p.Glu214Lys (c.640G>A); ClinVar=VCV000014059; Zygosity=Heterozygous (PubMed=32871395).
Disease Leigh disease (NCIt: C84814)
Leigh syndrome (ORDO: Orphanet_506)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 2-3Y
Category Induced pluripotent stem cell
Publications

PubMed=32871395; DOI=10.1016/j.scr.2020.101964
Sequiera G.L., Rockman-Greenberg C., Dhingra S.
Induced pluripotent stem cell line UOMi002-A from a patient with Leigh syndrome with compound heterozygous mutations in the NDUFV1 gene.
Stem Cell Res. 48:101964-101964(2020)

PubMed=33807701; DOI=10.3390/cells10030568
Sequiera G.L., Srivastava A., Alagarsamy K.N., Rockman-Greenberg C., Dhingra S.
Generation and evaluation of isogenic iPSC as a source of cell replacement therapies in patients with Kearns Sayre syndrome.
Cells 10:568.1-568.15(2021)

Cross-references
Cell line databases/resources hPSCreg; UOMi002-A
Encyclopedic resources Wikidata; Q98134318
Entry history
Entry creation02-Jul-2020
Last entry update20-May-2021
Version number4