ID   BCHCNi001-A
AC   CVCL_B5RW
DR   hPSCreg; BCHCNi001-A
DR   Wikidata; Q111732955
RX   PubMed=34953328;
CC   From: Department of Neurology, Beijing Children's Hospital; Beijing; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 25695; CARS2; Simple; p.Gly476Arg (c.1426G>A); Zygosity=Homozygous (PubMed=34953328).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C185238; Combined oxidative phosphorylation deficiency 27
DI   ORDO; Orphanet_477774; Combined oxidative phosphorylation defect type 27
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
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RX   PubMed=34953328; DOI=10.1016/j.scr.2021.102633;
RA   Xu M.-T., Duan X., Ren X.-T., Liu Z.-M., Chen S.-H., Fang F.;
RT   "Generation of an iPSC line from a patient with early-onset epileptic
RT   encephalopathy carrying CARS2 (p.G476R) mutation.";
RL   Stem Cell Res. 59:102633-102633(2022).
//