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Cellosaurus LUMCi024-A (CVCL_ZA16)

[Text version]
Cell line name LUMCi024-A
Synonyms LUMC0057iAARS03
Accession CVCL_ZA16
Resource Identification Initiative To cite this cell line use: LUMCi024-A (RRID:CVCL_ZA16)
Comments From: Leiden University Medical Center; Leiden; Netherlands.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 21022; AARS2; Simple; p.Arg592Trp (c.1774C>T); ClinVar=VCV000030940; Zygosity=Heterozygous (PubMed=34088003).
  • Mutation; HGNC; 21022; AARS2; Simple; p.Val730Met (c.2188G>A); ClinVar=VCV000136214; Zygosity=Heterozygous (PubMed=34088003).
  • Mutation; HGNC; 21022; AARS2; Simple; p.Arg958Ter (c.2872C>T); dbSNP=rs779332260; Zygosity=Heterozygous (PubMed=34088003).
Disease Combined oxidative phosphorylation deficiency 8 (NCIt: C180851)
Combined oxidative phosphorylation defect type 8 (ORDO: Orphanet_319504)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4D
Category Induced pluripotent stem cell
Publications

PubMed=34088003; DOI=10.1016/j.scr.2021.102374
van Helden R.W.J., Birket M.J., Freund C.M.A.H., Arendzen C.H., Mikkers H.M.M., Orlova V., de Coo R.I., Mummery C.L., Bellin M.
Generation of three human induced pluripotent stem cell lines, LUMCi024-A, LUMCi025-A, and LUMCi026-A, from two patients with combined oxidative phosphorylation deficiency 8 and a related control.
Stem Cell Res. 53:102374-102374(2021)

Cross-references
Cell line databases/resources hPSCreg; LUMCi024-A
Encyclopedic resources Wikidata; Q98127078
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number6