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 van Helden R.W.J., Birket M.J., Freund C.M.A.H., Arendzen C.H., Mikkers H.M.M., Orlova V.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)
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