ID   LUMCi024-A
AC   CVCL_ZA16
SY   LUMC0057iAARS03
DR   hPSCreg; LUMCi024-A
DR   Wikidata; Q98127078
RX   PubMed=34088003;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 21022; AARS2; Simple; p.Arg592Trp (c.1774C>T); ClinVar=VCV000030940; Zygosity=Heterozygous (PubMed=34088003).
CC   Sequence variation: Mutation; HGNC; 21022; AARS2; Simple; p.Val730Met (c.2188G>A); ClinVar=VCV000136214; Zygosity=Heterozygous (PubMed=34088003).
CC   Sequence variation: Mutation; HGNC; 21022; AARS2; Simple; p.Arg958Ter (c.2872C>T); dbSNP=rs779332260; Zygosity=Heterozygous (PubMed=34088003).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C180851; Combined oxidative phosphorylation deficiency 8
DI   ORDO; Orphanet_319504; Combined oxidative phosphorylation defect type 8
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4D
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=34088003; DOI=10.1016/j.scr.2021.102374;
RA   van Helden R.W.J., Birket M.J., Freund C.M.A.H., Arendzen C.H.,
RA   Mikkers H.M.M., Orlova V., de Coo R.I., Mummery C.L., Bellin M.;
RT   "Generation of three human induced pluripotent stem cell lines,
RT   LUMCi024-A, LUMCi025-A, and LUMCi026-A, from two patients with
RT   combined oxidative phosphorylation deficiency 8 and a related
RT   control.";
RL   Stem Cell Res. 53:102374-102374(2021).
//