Cellosaurus cell line LUMCi024-A (CVCL

Cellosaurus LUMCi024-A (CVCL_ZA16)

Cross-references
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; HGNC:21022; AARS2; Simple; p.Arg592Trp (c.1774C>T); ClinVar=VCV000030940; Zygosity=Heterozygous (PubMed=34088003). Mutation; HGNC; HGNC:21022; AARS2; Simple; p.Val730Met (c.2188G>A); ClinVar=VCV000136214; Zygosity=Heterozygous (PubMed=34088003). Mutation; HGNC; 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 Ruben W.J. van Helden, Matthew J. Birket, Christian M.A.H. Freund, Christiaan H. Arendzen, Harald M.M. Mikkers, Valeria V. Orlova, Rene I. de Coo, Christine L. Mummery, Milena Bellin; 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)
Cell line databases/resources	hPSCreg; LUMCi024-A
Encyclopedic resources	Wikidata; Q98127078
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	7