ID   XACHi011-A
AC   CVCL_ZB27
SY   P2
DR   hPSCreg; XACHi011-A
DR   Wikidata; Q98135126
RX   PubMed=32707487;
CC   From: Children's Research Institute of Shaanxi province, Xi'an Key Laboratory of Children's Health and Diseases; Xi'an; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 1243; C1QBP; Simple; p.Leu275Phe (c.823C>T); ClinVar=VCV000441245; Zygosity=Heterozygous (PubMed=32707487).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C174440; Combined oxidative phosphorylation deficiency 33
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 5
//
RX   PubMed=32707487; DOI=10.1016/j.scr.2020.101912;
RA   Zhang Y.-M., Wang J., Zhou Y.-F., Li H., Li A.-M., Tan X.-Q.,
RA   Wang G.-X., Lei M.;
RT   "Generation of two induced pluripotent stem cell lines (XACHi0010-A,
RT   XACHi0011-A) from a Chinese family with combined oxidative
RT   phosphorylation deficiency carrying homozygous and heterozygous
RT   C1QBP-L275F mutation.";
RL   Stem Cell Res. 47:101912-101912(2020).
//