Cellosaurus logo
expasy logo

Cellosaurus KUCFRi003-A (CVCL_A8WI)

[Text version]
Cell line name KUCFRi003-A
Synonyms GM03672 iPSC
Accession CVCL_A8WI
Resource Identification Initiative To cite this cell line use: KUCFRi003-A (RRID:CVCL_A8WI)
Comments From: Department of Biotechnology, College of Life Sciences and Biotechnology, Korea University; Seoul; South Korea.
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 7427; MT-CYB; Simple; p.Asp171Asn (m.15257G>A); ClinVar=VCV000009674; Zygosity=Heteroplasmic (PubMed=34091428).
Disease Leigh disease (NCIt: C84814)
Leigh syndrome (ORDO: Orphanet_506)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_8A60 (GM03672)
Sex of cell Female
Age at sampling 1Y4M
Category Induced pluripotent stem cell
Publications

PubMed=34091428; DOI=10.1016/j.scr.2021.102392
Son D., Zheng J., Kim I.Y., You S.
Self-replicative mRNA-mediated generation of induced pluripotent stem cell line from a 1-year-old Leigh syndrome patient with mitochondrial DNA cytochrome b mutation.
Stem Cell Res. 54:102392-102392(2021)

Cross-references
Cell line databases/resources hPSCreg; KUCFRi003-A
Encyclopedic resources Wikidata; Q108820632
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number5