ID   SDQLCHi009-A
AC   CVCL_YK73
DR   hPSCreg; SDQLCHi009-A
DR   SKIP; SKIP005641
DR   Wikidata; Q98129464
RX   PubMed=32014801;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8512; OTC; Simple; c.663+2T>G; Zygosity=Hemizygous; Note=Splice donor mutation (PubMed=32014801).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84957; Ornithine carbamoyltransferase deficiency disease
DI   ORDO; Orphanet_664; Ornithine transcarbamylase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 02-05-24; Version: 8
//
RX   PubMed=32014801; DOI=10.1016/j.scr.2020.101704;
RA   Yang X.-M., Yan B.-B., Zhang H.-Y., Ma Y.-Y., Zhou Q., Li Y.,
RA   Guan J.-Y., Wang D., Liu Y., Gai Z.-T.;
RT   "Generation of an induced pluripotent stem cell line (SDQLCHi009-A)
RT   from a patient with 47,XXY and ornithine transcarbamylase deficiency
RT   carrying a hemizygote mutation in OTC.";
RL   Stem Cell Res. 43:101704-101704(2020).
//